V72M (p.Val72Met) variant of CYP2E1 (Cytochrome P450 2E1)
V72M (p.Val72Met) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V72M (p.Val72Met) variant details
- p.Val72Met
- 1000Genomes rs35844228
- ExAC rs35844228
- TOPMed rs35844228
- gnomAD rs35844228
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.14
- MetaLR 0.07
- MetaSVM -0.98
- CADD 17.40
- PolyPhen-2 0.36
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available