D11V (p.Asp11Val) variant of HNF4A (P41235)
D11V (p.Asp11Val) in HNF4A (P41235) 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.
D11V (p.Asp11Val) variant details
- p.Asp11Val
- gnomAD 20-44401404-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.66
- CADD 28.90
- PolyPhen-2 0.63
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available