S2Y (p.Ser2Tyr) variant of CYP2E1 (Cytochrome P450 2E1)
S2Y (p.Ser2Tyr) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S2Y (p.Ser2Tyr) variant details
- p.Ser2Tyr
- gnomAD 10-133527400-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.08
- MetaLR 0.19
- MetaSVM -0.91
- CADD 18.30
- PolyPhen-2 0.46
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available