A17V (p.Ala17Val) variant of HNF4A (P41235)
A17V (p.Ala17Val) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- gnomAD 20-44401422-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.19
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available