S17R (p.Ser17Arg) variant of SLC26A4 (Pendrin)
S17R (p.Ser17Arg) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S17R (p.Ser17Arg) variant details
- p.Ser17Arg
- gnomAD 7-107661692-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.39
- MetaSVM -0.54
- CADD 14.10
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- Literature evidence available