A2S (p.Ala2Ser) variant of SLC26A4 (Pendrin)
A2S (p.Ala2Ser) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 7-107661645-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.51
- MetaSVM -0.38
- CADD 21.10
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available