R54S (p.Arg54Ser) variant of CYP3A5 (Cytochrome P450 3A5)
R54S (p.Arg54Ser) in CYP3A5 (Cytochrome P450 3A5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R54S (p.Arg54Ser) variant details
- p.Arg54Ser
- 1000Genomes rs566629410
- ExAC rs566629410
- TOPMed rs566629410
- gnomAD rs566629410
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.03
- CADD 14.50
- PolyPhen-2 0.17
- SIFT 0.08
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available