S17C (p.Ser17Cys) variant of SLC26A4 (Pendrin)
S17C (p.Ser17Cys) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S17C (p.Ser17Cys) variant details
- p.Ser17Cys
- gnomAD 7-107661690-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.29
- ESM-1b 0.05
- AlphaMissense 0.09
- MetaLR 0.47
- MetaSVM -0.36
- CADD 18.70
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Literature evidence available