A31G (p.Ala31Gly) variant of SLC26A4 (Pendrin)
A31G (p.Ala31Gly) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A31G (p.Ala31Gly) variant details
- p.Ala31Gly
- gnomAD 7-107661733-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.60
- MetaSVM -0.15
- CADD 22.30
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Literature evidence available