R59P (p.Arg59Pro) variant of CYP2E1 (Cytochrome P450 2E1)
R59P (p.Arg59Pro) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R59P (p.Arg59Pro) variant details
- p.Arg59Pro
- ExAC rs779311330
- TOPMed rs779311330
- gnomAD rs779311330
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.45
- MetaLR 0.28
- MetaSVM -0.51
- CADD 9.18
- PolyPhen-2 0.61
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available