R54G (p.Arg54Gly) variant of CYP3A5 (Cytochrome P450 3A5)
R54G (p.Arg54Gly) in CYP3A5 (Cytochrome P450 3A5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R54G (p.Arg54Gly) variant details
- p.Arg54Gly
- 1000Genomes rs566629410
- ExAC rs566629410
- TOPMed rs566629410
- gnomAD rs566629410
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.07
- CADD 16.60
- PolyPhen-2 0.14
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available