L4F (p.Leu4Phe) variant of CYP2E1 (Cytochrome P450 2E1)
L4F (p.Leu4Phe) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- ExAC rs753713804
- gnomAD rs753713804
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.22
- MetaLR 0.22
- MetaSVM -0.84
- CADD 10.90
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available