A31V (p.Ala31Val) variant of SLC26A4 (Pendrin)
A31V (p.Ala31Val) 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.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- gnomAD 7-107661733-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.67
- MetaSVM 0.06
- CADD 22.30
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Literature evidence available