Y27C (p.Tyr27Cys) variant of SLC26A4 (Pendrin)
Y27C (p.Tyr27Cys) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Y27C (p.Tyr27Cys) variant details
- p.Tyr27Cys
- gnomAD 7-107661721-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.27
- MetaLR 0.86
- MetaSVM 0.79
- CADD 27.30
- Population evidence available
- Structural context available
- Literature evidence available