F64L (p.Phe64Leu) variant of CYP2E1 (Cytochrome P450 2E1)
F64L (p.Phe64Leu) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
F64L (p.Phe64Leu) variant details
- p.Phe64Leu
- TOPMed rs1294436417
- gnomAD rs1294436417
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.26
- MetaLR 0.18
- MetaSVM -1.07
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available