S17S (p.Ser17Ser) variant of SLC26A4 (Pendrin)
S17S (p.Ser17Ser) in SLC26A4 (Pendrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S17S (p.Ser17Ser) variant details
- p.Ser17Ser
- gnomAD 7-107661692-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.183
- CADD 14.50
- Population evidence available
- Structural context available
- Literature evidence available