F57L (p.Phe57Leu) variant of CYP2E1 (Cytochrome P450 2E1)
F57L (p.Phe57Leu) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
F57L (p.Phe57Leu) variant details
- p.Phe57Leu
- ExAC rs756596289
- TOPMed rs756596289
- gnomAD rs756596289
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.16
- MetaLR 0.15
- MetaSVM -0.92
- CADD 7.54
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available