R47H (p.Arg47His) variant of CYP4F2 (Cytochrome P450 4F2)
R47H (p.Arg47His) in CYP4F2 (Cytochrome P450 4F2) 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 0.14 / 1. The record also includes population frequency data and structural context.
R47H (p.Arg47His) variant details
- p.Arg47His
- rs570092372
- NCI-TCGA Cosmic COSV5000
- cosmic curated COSV50000
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.14
- CADD 4.60
- PolyPhen-2 0.02
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available