R49W (p.Arg49Trp) variant of CYP4F2 (Cytochrome P450 4F2)
R49W (p.Arg49Trp) 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 0.25 / 1. The record also includes population frequency data and structural context.
R49W (p.Arg49Trp) variant details
- p.Arg49Trp
- rs771958577
- NCI-TCGA Cosmic COSV5000
- cosmic curated COSV50000
- ExAC rs771958577
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.21
- CADD 22.60
- PolyPhen-2 0.89
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available