R76C (p.Arg76Cys) variant of CYP2E1 (Cytochrome P450 2E1)
R76C (p.Arg76Cys) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R76C (p.Arg76Cys) variant details
- p.Arg76Cys
- cosmic curated COSV53314
- TOPMed rs1329756728
- gnomAD rs1329756728
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.18
- MetaLR 0.45
- MetaSVM -0.44
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.18
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available