L60L (p.Leu60Leu) variant of CYP2E1 (Cytochrome P450 2E1)
L60L (p.Leu60Leu) in CYP2E1 (Cytochrome P450 2E1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L60L (p.Leu60Leu) variant details
- p.Leu60Leu
- rs2133593090
- gnomAD 10-133528481-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 14.50
- Population evidence available
- Structural context available
- Literature evidence available