S17N (p.Ser17Asn) variant of SLC26A4 (Pendrin)
S17N (p.Ser17Asn) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S17N (p.Ser17Asn) variant details
- p.Ser17Asn
- gnomAD 7-107661691-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.49
- MetaSVM -0.49
- CADD 15.00
- Population evidence available
- Structural context available
- Literature evidence available