S56F (p.Ser56Phe) variant of CYP2E1 (Cytochrome P450 2E1)
S56F (p.Ser56Phe) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S56F (p.Ser56Phe) variant details
- p.Ser56Phe
- TOPMed rs958141259
- gnomAD rs958141259
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.47
- MetaLR 0.49
- MetaSVM -0.38
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available