R54H (p.Arg54His) variant of CYP3A5 (Cytochrome P450 3A5)
R54H (p.Arg54His) in CYP3A5 (Cytochrome P450 3A5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R54H (p.Arg54His) variant details
- p.Arg54His
- 1000Genomes rs186648988
- ExAC rs186648988
- TOPMed rs186648988
- gnomAD rs186648988
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.04
- CADD 8.54
- PolyPhen-2 0.08
- SIFT 0.08
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available