L11A (p.Leu11Ala) variant of CYP2E1 (Cytochrome P450 2E1)
L11A (p.Leu11Ala) in CYP2E1 (Cytochrome P450 2E1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L11A (p.Leu11Ala) variant details
- p.Leu11Ala
- rs1851283349
- gnomAD 10-133527424-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.604
- CADD 24.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available