S2F (p.Ser2Phe) variant of CYP2E1 (Cytochrome P450 2E1)
S2F (p.Ser2Phe) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S2F (p.Ser2Phe) variant details
- p.Ser2Phe
- gnomAD 10-133527400-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.06
- MetaLR 0.17
- MetaSVM -0.93
- CADD 16.00
- PolyPhen-2 0.28
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available