A31D (p.Ala31Asp) variant of SLC26A4 (Pendrin)
A31D (p.Ala31Asp) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A31D (p.Ala31Asp) variant details
- p.Ala31Asp
- gnomAD 7-107661733-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.23
- ESM-1b 0.72
- AlphaMissense 0.14
- MetaLR 0.65
- MetaSVM -0.08
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available