D46L (p.Asp46Leu) variant of CYP2C19 (Cytochrome P450 2C19)
D46L (p.Asp46Leu) in CYP2C19 (Cytochrome P450 2C19) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D46L (p.Asp46Leu) variant details
- p.Asp46Leu
- rs760774552
- gnomAD 10-94762835-CAGAT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.232
- CADD 21.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.538
- Literature evidence available