R66H (p.Arg66His) variant of HNF4A (P41235)
R66H (p.Arg66His) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R66H (p.Arg66His) variant details
- p.Arg66His
- rs754042731
- gnomAD 20-44402570-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 2.10
- Most common in the Non-Finnish European population (allele frequency 0.00016)
- Structural context available
- Literature evidence available