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what is HBB?
The beta chain of haemoglobin, the molecule that carries oxygen in red blood cells. One single change (E7V) causes sickle-cell disease.
how the AI did on HBB
AlphaMissense matched the confirmed verdict on 29 of 41 mutations (71%). It missed 10 and raised 2 false alarms.
accuracy
vs doctors
0.76
vs lab
n/a
Note: AlphaMissense was trained on ClinVar, so “vs doctors” partly grades it on its own answer key and reads high. The independent check is “vs lab.” why this matters →
▸ the breakdown · true / false positives
AI vs doctors
25TP
10FN
2FP
4TN
the mutation
E7V
Glu → Val at position 7
✗ AI was wrongFN
AlphaMissense called it harmless, but it is disease-causing. A miss.
what each source says
AlphaMissense
the AI
0.223benign
ClinVar
doctors · ★★
pathogenic↗
Every HBB variant: the raw evidence
Each row: what the AI guessed, and what each real source said. Doctors (ClinVar) is the clinical record the AI was tuned on.
| Mutation | The AI’s guess | Clinical | Did the AI get it right? |
|---|---|---|---|
| M1I | harmful0.67 | harmful★★↗ | ✓ right |
| M1K | harmful0.73 | harmful★★↗ | ✓ right |
| M1L | harmless0.24 | harmful★★↗ | ✗ missed it |
| M1R | harmful0.74 | harmful★★↗ | ✓ right |
| M1T | unsure0.54 | harmful★★↗ | AI unsure |
| M1V | harmless0.16 | harmful★★↗ | ✗ missed it |
| E7K | harmless0.27 | harmful★★↗ | ✗ missed it |
| E7V | harmless0.22 | harmful★★↗ | ✗ missed it |
| E8G | harmful0.83 | harmless★★↗ | ✗ false alarm |
| S10C | harmless0.17 | harmless★★↗ | ✓ right |
| N20S | harmless0.08 | harmful★★↗ | ✗ missed it |
| V21M | harmless0.26 | harmful★★↗ | ✗ missed it |
| E27K | harmful0.67 | harmful★★↗ | ✓ right |
| A28S | harmless0.17 | harmful★★★↗ | ✗ missed it |
| R31G | harmful0.87 | harmful★★↗ | ✓ right |
| R31K | harmful0.75 | harmful★★↗ | ✓ right |
| R31T | harmful0.94 | harmful★★↗ | ✓ right |
| V35F | harmful0.88 | harmful★★↗ | ✓ right |
| F43S | harmful0.99 | harmful★★↗ | ✓ right |
| H64N | harmful0.99 | harmful★★↗ | ✓ right |
| H64R | harmful0.97 | harmful★★↗ | ✓ right |
| H64Y | harmful0.97 | harmful★★↗ | ✓ right |
| K67T | unsure0.51 | harmful★★↗ | AI unsure |
| V68M | harmful0.98 | harmful★★↗ | ✓ right |
| L69F | harmful0.71 | harmful★★↗ | ✓ right |
| T88P | harmless0.13 | harmless★★↗ | ✓ right |
| L89P | harmful0.99 | harmful★★↗ | ✓ right |
| H98Q | harmful0.90 | harmful★★↗ | ✓ right |
| V99M | harmful0.98 | harmful★★↗ | ✓ right |
| L107P | harmful0.97 | harmful★★↗ | ✓ right |
| G108D | harmful0.99 | harmful★★↗ | ✓ right |
| N109K | harmful0.88 | harmful★★↗ | ✓ right |
| V110M | harmless0.25 | harmful★★↗ | ✗ missed it |
| L111P | harmful0.98 | harmful★★↗ | ✓ right |
| L115P | harmful0.97 | harmful★★↗ | ✓ right |
| A116D | harmful0.97 | harmful★★↗ | ✓ right |
| K121N | harmless0.19 | harmless★★↗ | ✓ right |
| E122K | unsure0.53 | harmful★★↗ | AI unsure |
| E122Q | harmless0.20 | harmful★★↗ | ✗ missed it |
| K133Q | harmful0.89 | harmless★★↗ | ✗ false alarm |
| H144R | harmless0.24 | harmful★★↗ | ✗ missed it |
| H144Y | harmless0.25 | harmless★★↗ | ✓ right |
| Y146C | harmful0.99 | harmful★★↗ | ✓ right |
| Y146N | harmful0.98 | harmful★★↗ | ✓ right |
44 variants · “harmful” = disease-causing, “harmless” = benign. Use arrow keys to move between rows and Enter to select one.