G140R (p.Gly140Arg) variant of CYP3A5 (Cytochrome P450 3A5)
G140R (p.Gly140Arg) in CYP3A5 (Cytochrome P450 3A5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G140R (p.Gly140Arg) variant details
- p.Gly140Arg
- ExAC rs764608096
- TOPMed rs764608096
- gnomAD rs764608096
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.58
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available