S28S (p.Ser28Ser) variant of SLC26A4 (Pendrin)
S28S (p.Ser28Ser) 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.
S28S (p.Ser28Ser) variant details
- p.Ser28Ser
- gnomAD 7-107661725-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.398
- CADD 20.70
- Population evidence available
- Structural context available
- Literature evidence available