V12M (p.Val12Met) variant of CYP2E1 (Cytochrome P450 2E1)
V12M (p.Val12Met) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
V12M (p.Val12Met) variant details
- p.Val12Met
- gnomAD rs1457901117
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.13
- MetaLR 0.27
- MetaSVM -0.81
- CADD 13.10
- PolyPhen-2 0.28
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available