V72L (p.Val72Leu) variant of CYP2E1 (Cytochrome P450 2E1)
V72L (p.Val72Leu) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
V72L (p.Val72Leu) variant details
- p.Val72Leu
- 1000Genomes rs35844228
- ExAC rs35844228
- TOPMed rs35844228
- gnomAD rs35844228
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.06
- MetaLR 0.03
- MetaSVM -0.97
- CADD 10.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available