R59Q (p.Arg59Gln) variant of CYP2E1 (Cytochrome P450 2E1)
R59Q (p.Arg59Gln) in CYP2E1 (Cytochrome P450 2E1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R59Q (p.Arg59Gln) variant details
- p.Arg59Gln
- ExAC rs779311330
- TOPMed rs779311330
- gnomAD rs779311330
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.20
- MetaLR 0.12
- MetaSVM -1.06
- CADD 0.13
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not specified)
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available