G43R (p.Gly43Arg) variant of CYP2E1 (Cytochrome P450 2E1)
G43R (p.Gly43Arg) 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 0.65 / 1. The record also includes population frequency data and structural context.
G43R (p.Gly43Arg) variant details
- p.Gly43Arg
- rs759372423
- ClinGen CA5767448
- cosmic curated COSV99429
- ClinVar RCV004367934
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.58
- MetaLR 0.65
- MetaSVM 0.47
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.43
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available