L60V (p.Leu60Val) variant of CYP2E1 (Cytochrome P450 2E1)
L60V (p.Leu60Val) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L60V (p.Leu60Val) variant details
- p.Leu60Val
- gnomAD 10-133528481-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.33
- MetaLR 0.27
- MetaSVM -0.71
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available