A2V (p.Ala2Val) variant of SLC26A4 (Pendrin)
A2V (p.Ala2Val) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD rs1333788556
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.26
- ESM-1b 0.01
- AlphaMissense 0.25
- MetaLR 0.54
- MetaSVM -0.31
- CADD 18.00
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available