V22V (p.Val22Val) variant of SLC26A4 (Pendrin)
V22V (p.Val22Val) in SLC26A4 (Pendrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V22V (p.Val22Val) variant details
- p.Val22Val
- gnomAD 7-107661707-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.399
- CADD 17.50
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Literature evidence available