V8I (p.Val8Ile) variant of HNF4A (P41235)
V8I (p.Val8Ile) 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 0.41 / 1. The record also includes population frequency data and structural context.
V8I (p.Val8Ile) variant details
- p.Val8Ile
- rs537703038
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10029
- 1000Genomes rs537703038
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.26
- MetaLR 0.47
- MetaSVM -0.60
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.34
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00085)
- Structural context available