V56A (p.Val56Ala) variant of HNF4A (P41235)
V56A (p.Val56Ala) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
V56A (p.Val56Ala) variant details
- p.Val56Ala
- rs995010217
- gnomAD 20-44401796-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0934
- CADD 1.80
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Literature evidence available