V8A (p.Val8Ala) variant of HNF4A (P41235)
V8A (p.Val8Ala) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V8A (p.Val8Ala) variant details
- p.Val8Ala
- rs754071908
- gnomAD 20-44355839-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- CADD 22.20
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available
- Literature evidence available