L26V (p.Leu26Val) variant of HNF4A (P41235)
L26V (p.Leu26Val) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L26V (p.Leu26Val) variant details
- p.Leu26Val
- gnomAD rs1245414025
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.40
- MetaLR 0.86
- MetaSVM 0.73
- CADD 25.30
- PolyPhen-2 0.93
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available