P38R (p.Pro38Arg) variant of CYP2E1 (Cytochrome P450 2E1)
P38R (p.Pro38Arg) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P38R (p.Pro38Arg) variant details
- p.Pro38Arg
- ESP rs76271067
- ExAC rs76271067
- TOPMed rs76271067
- gnomAD rs76271067
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.26
- MetaLR 0.45
- MetaSVM 0.06
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available