R24M (p.Arg24Met) variant of CYP2E1 (Cytochrome P450 2E1)
R24M (p.Arg24Met) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R24M (p.Arg24Met) variant details
- p.Arg24Met
- gnomAD 10-133527466-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.30
- MetaLR 0.19
- MetaSVM -0.85
- CADD 22.40
- PolyPhen-2 0.36
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available