F37L (p.Phe37Leu) variant of CYP2E1 (Cytochrome P450 2E1)
F37L (p.Phe37Leu) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
F37L (p.Phe37Leu) variant details
- p.Phe37Leu
- ExAC rs771599544
- gnomAD rs771599544
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.12
- MetaLR 0.22
- MetaSVM -0.81
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 1.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available