S28N (p.Ser28Asn) variant of SLC26A4 (Pendrin)
S28N (p.Ser28Asn) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S28N (p.Ser28Asn) variant details
- p.Ser28Asn
- gnomAD 7-107661724-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.54
- MetaSVM -0.49
- CADD 19.00
- Population evidence available
- Structural context available
- Literature evidence available