K143R (p.Lys143Arg) variant of CYP3A5 (Cytochrome P450 3A5)
K143R (p.Lys143Arg) in CYP3A5 (Cytochrome P450 3A5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
K143R (p.Lys143Arg) variant details
- p.Lys143Arg
- ESP rs367673189
- ExAC rs367673189
- TOPMed rs367673189
- gnomAD rs367673189
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.35
- CADD 25.30
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available