A31S (p.Ala31Ser) variant of SLC26A4 (Pendrin)
A31S (p.Ala31Ser) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A31S (p.Ala31Ser) variant details
- p.Ala31Ser
- gnomAD rs1156674958
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.43
- MetaSVM -0.55
- CADD 19.40
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available