F57S (p.Phe57Ser) variant of CYP2E1 (Cytochrome P450 2E1)
F57S (p.Phe57Ser) in CYP2E1 (Cytochrome P450 2E1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
F57S (p.Phe57Ser) variant details
- p.Phe57Ser
- rs1564846656
- gnomAD 10-133527563-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 19.60
- Population evidence available
- Structural context available
- Literature evidence available