Y20H (p.Tyr20His) variant of SLC26A4 (Pendrin)
Y20H (p.Tyr20His) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Y20H (p.Tyr20His) variant details
- p.Tyr20His
- gnomAD 7-107661699-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.89
- ESM-1b 0.00
- AlphaMissense 0.37
- MetaLR 0.86
- MetaSVM 0.87
- CADD 26.70
- Population evidence available
- Structural context available
- Literature evidence available