V31M (p.Val31Met) variant of HNF4A (P41235)
V31M (p.Val31Met) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V31M (p.Val31Met) variant details
- p.Val31Met
- gnomAD 20-44401463-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.30
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.75
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available