R66C (p.Arg66Cys) variant of HNF4A (P41235)
R66C (p.Arg66Cys) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R66C (p.Arg66Cys) variant details
- p.Arg66Cys
- rs769620848
- gnomAD 20-44402569-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0819
- CADD 0.28
- Most common in the Middle Eastern population (allele frequency 0.00022)
- Structural context available
- Literature evidence available