R2P (p.Arg2Pro) variant of HNF4A (P41235)
R2P (p.Arg2Pro) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R2P (p.Arg2Pro) variant details
- p.Arg2Pro
- gnomAD 20-44401377-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.59
- CADD 30.00
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available