V26G (p.Val26Gly) variant of SLC26A4 (Pendrin)
V26G (p.Val26Gly) in SLC26A4 (Pendrin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
V26G (p.Val26Gly) variant details
- p.Val26Gly
- gnomAD 7-107661715-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.557
- CADD 27.10
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Literature evidence available