E16V (p.Glu16Val) variant of TMC1 (Q8TDI8)
E16V (p.Glu16Val) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E16V (p.Glu16Val) variant details
- p.Glu16Val
- gnomAD 9-72688739-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available