R46G (p.Arg46Gly) variant of CYP4F2 (Cytochrome P450 4F2)
R46G (p.Arg46Gly) in CYP4F2 (Cytochrome P450 4F2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R46G (p.Arg46Gly) variant details
- p.Arg46Gly
- cosmic curated COSV50003
- 1000Genomes rs559132777
- ExAC rs559132777
- TOPMed rs559132777
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.29
- CADD 8.01
- PolyPhen-2 0.01
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available