R47C (p.Arg47Cys) variant of CYP4F2 (Cytochrome P450 4F2)
R47C (p.Arg47Cys) in CYP4F2 (Cytochrome P450 4F2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R47C (p.Arg47Cys) variant details
- p.Arg47Cys
- cosmic curated COSV50000
- 1000Genomes rs115517770
- ExAC rs115517770
- TOPMed rs115517770
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.23
- CADD 18.40
- PolyPhen-2 0.05
- SIFT 0.04
- Most common in the HGDP:BURUSHO population (allele frequency 0.021)
- Structural context available