Y20F (p.Tyr20Phe) variant of SLC26A4 (Pendrin)
Y20F (p.Tyr20Phe) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
Y20F (p.Tyr20Phe) variant details
- p.Tyr20Phe
- gnomAD 7-107661700-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.73
- ESM-1b 0.27
- AlphaMissense 0.11
- MetaLR 0.85
- MetaSVM 0.87
- CADD 25.70
- Population evidence available
- Structural context available
- Literature evidence available