T17A (p.Thr17Ala) variant of TMC1 (Q8TDI8)
T17A (p.Thr17Ala) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T17A (p.Thr17Ala) variant details
- p.Thr17Ala
- gnomAD 9-72688741-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.73
- Population evidence available
- Structural context available
- Literature evidence available