R63C (p.Arg63Cys) variant of CYP2E1 (Cytochrome P450 2E1)
R63C (p.Arg63Cys) in CYP2E1 (Cytochrome P450 2E1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R63C (p.Arg63Cys) variant details
- p.Arg63Cys
- ESP rs374426412
- ExAC rs374426412
- TOPMed rs374426412
- gnomAD rs374426412
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.29
- MetaLR 0.37
- MetaSVM -0.70
- CADD 28.50
- PolyPhen-2 0.91
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available