R66S (p.Arg66Ser) variant of HNF4A (P41235)
R66S (p.Arg66Ser) 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.
R66S (p.Arg66Ser) variant details
- p.Arg66Ser
- rs769620848
- gnomAD 20-44402569-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0821
- CADD 0.21
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available