E29A (p.Glu29Ala) variant of HNF4A (P41235)
E29A (p.Glu29Ala) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
E29A (p.Glu29Ala) variant details
- p.Glu29Ala
- gnomAD 20-44401458-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.69
- CADD 28.00
- PolyPhen-2 0.70
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available