F68L (p.Phe68Leu) variant of CYP2E1 (Cytochrome P450 2E1)
F68L (p.Phe68Leu) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
F68L (p.Phe68Leu) variant details
- p.Phe68Leu
- gnomAD 10-133528507-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.56
- MetaLR 0.28
- MetaSVM -0.63
- CADD 26.50
- PolyPhen-2 0.65
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available