Y20N (p.Tyr20Asn) variant of SLC26A4 (Pendrin)
Y20N (p.Tyr20Asn) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
Y20N (p.Tyr20Asn) variant details
- p.Tyr20Asn
- gnomAD 7-107661699-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.50
- MetaLR 0.85
- MetaSVM 0.88
- CADD 26.60
- Population evidence available
- Structural context available
- Literature evidence available