M10R (p.Met10Arg) variant of HNF4A (P41235)
M10R (p.Met10Arg) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
M10R (p.Met10Arg) variant details
- p.Met10Arg
- gnomAD 20-44401401-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.81
- CADD 29.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available