L11M (p.Leu11Met) variant of CYP2E1 (Cytochrome P450 2E1)
L11M (p.Leu11Met) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L11M (p.Leu11Met) variant details
- p.Leu11Met
- 1000Genomes rs543066971
- ExAC rs543066971
- TOPMed rs543066971
- gnomAD rs543066971
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.27
- MetaLR 0.41
- MetaSVM -0.59
- CADD 19.40
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available