E26V (p.Glu26Val) variant of TMC1 (Q8TDI8)
E26V (p.Glu26Val) 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.
E26V (p.Glu26Val) variant details
- p.Glu26Val
- gnomAD 9-72694555-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 19.10
- PolyPhen-2 0.02
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available