Y16H (p.Tyr16His) variant of SLC26A4 (Pendrin)
Y16H (p.Tyr16His) 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.
Y16H (p.Tyr16His) variant details
- p.Tyr16His
- gnomAD 7-107661687-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.50
- MetaSVM -0.35
- CADD 19.50
- Population evidence available
- Structural context available
- Literature evidence available