Y23C (p.Tyr23Cys) variant of HNF4A (P41235)
Y23C (p.Tyr23Cys) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Y23C (p.Tyr23Cys) variant details
- p.Tyr23Cys
- gnomAD 20-44401440-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.66
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available