A58V (p.Ala58Val) variant of HNF4A (P41235)
A58V (p.Ala58Val) in HNF4A (P41235) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A58V (p.Ala58Val) variant details
- p.Ala58Val
- NCI-TCGA Cosmic COSV5738
- cosmic curated COSV57383
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.25
- MetaLR 0.67
- MetaSVM 0.19
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.31
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available