R46C (p.Arg46Cys) variant of CYP4F2 (Cytochrome P450 4F2)
R46C (p.Arg46Cys) in CYP4F2 (Cytochrome P450 4F2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R46C (p.Arg46Cys) variant details
- p.Arg46Cys
- rs559132777
- ClinGen CA9274152
- ClinVar RCV004370555
- 1000Genomes rs559132777
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.23
- CADD 4.87
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available