L17F (p.Leu17Phe) variant of CYP2E1 (Cytochrome P450 2E1)
L17F (p.Leu17Phe) in CYP2E1 (Cytochrome P450 2E1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L17F (p.Leu17Phe) variant details
- p.Leu17Phe
- rs367957731
- ClinGen CA5767437
- ClinVar RCV004240171
- 1000Genomes rs367957731
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.25
- MetaLR 0.44
- MetaSVM -0.49
- CADD 21.90
- PolyPhen-2 1.00
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available