A3V (p.Ala3Val) variant of SLC26A4 (Pendrin)
A3V (p.Ala3Val) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD 7-107661649-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.53
- MetaSVM -0.04
- CADD 18.10
- Population evidence available
- Structural context available
- Literature evidence available