R76P (p.Arg76Pro) variant of CYP2E1 (Cytochrome P450 2E1)
R76P (p.Arg76Pro) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R76P (p.Arg76Pro) variant details
- p.Arg76Pro
- 1000Genomes rs72559710
- ExAC rs72559710
- TOPMed rs72559710
- gnomAD rs72559710
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.28
- MetaLR 0.14
- MetaSVM -0.86
- CADD 20.30
- PolyPhen-2 1.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available