A18V (p.Ala18Val) variant of HNF4A (P41235)
A18V (p.Ala18Val) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- gnomAD 20-44401425-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.22
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available