R54C (p.Arg54Cys) variant of CYP3A5 (Cytochrome P450 3A5)
R54C (p.Arg54Cys) in CYP3A5 (Cytochrome P450 3A5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R54C (p.Arg54Cys) variant details
- p.Arg54Cys
- 1000Genomes rs566629410
- ExAC rs566629410
- TOPMed rs566629410
- gnomAD rs566629410
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.08
- CADD 22.90
- PolyPhen-2 0.93
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available