R63G (p.Arg63Gly) variant of CYP2E1 (Cytochrome P450 2E1)
R63G (p.Arg63Gly) in CYP2E1 (Cytochrome P450 2E1) 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 0.36 / 1. The record also includes population frequency data and structural context.
R63G (p.Arg63Gly) variant details
- p.Arg63Gly
- rs374426412
- ClinGen CA5767490
- ClinVar RCV004257857
- ESP rs374426412
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.31
- MetaLR 0.31
- MetaSVM -0.76
- CADD 24.40
- PolyPhen-2 0.64
- SIFT 0.36
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- Structural context available