L3F (p.Leu3Phe) variant of HNF4A (P41235)
L3F (p.Leu3Phe) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L3F (p.Leu3Phe) variant details
- p.Leu3Phe
- gnomAD rs1423549831
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.52
- MetaLR 0.81
- MetaSVM 0.80
- CADD 25.30
- PolyPhen-2 0.70
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available