S4R (p.Ser4Arg) variant of HNF4A (P41235)
S4R (p.Ser4Arg) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
S4R (p.Ser4Arg) variant details
- p.Ser4Arg
- rs779464983
- gnomAD 20-44355811-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- CADD 24.30
- Population evidence available
- Structural context available
- Literature evidence available