R59W (p.Arg59Trp) variant of CYP2E1 (Cytochrome P450 2E1)
R59W (p.Arg59Trp) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R59W (p.Arg59Trp) variant details
- p.Arg59Trp
- TOPMed rs1259826192
- gnomAD rs1259826192
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.37
- MetaLR 0.33
- MetaSVM -0.66
- CADD 22.70
- PolyPhen-2 0.75
- SIFT 0.21
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available