V26L (p.Val26Leu) variant of SLC26A4 (Pendrin)
V26L (p.Val26Leu) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
V26L (p.Val26Leu) variant details
- p.Val26Leu
- gnomAD 7-107661717-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.28
- MetaLR 0.66
- MetaSVM 0.03
- CADD 22.60
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Literature evidence available