V8M (p.Val8Met) variant of CYP2E1 (Cytochrome P450 2E1)
V8M (p.Val8Met) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V8M (p.Val8Met) variant details
- p.Val8Met
- TOPMed rs1338671524
- gnomAD rs1338671524
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.14
- MetaLR 0.23
- MetaSVM -0.75
- CADD 1.24
- PolyPhen-2 0.38
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available