R24S (p.Arg24Ser) variant of CYP2E1 (Cytochrome P450 2E1)
R24S (p.Arg24Ser) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R24S (p.Arg24Ser) variant details
- p.Arg24Ser
- gnomAD 10-133527467-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.19
- MetaLR 0.19
- MetaSVM -0.91
- CADD 19.80
- PolyPhen-2 0.03
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available