L57L (p.Leu57Leu) variant of CYP2C19 (Cytochrome P450 2C19)
L57L (p.Leu57Leu) in CYP2C19 (Cytochrome P450 2C19) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L57L (p.Leu57Leu) variant details
- p.Leu57Leu
- rs779668039
- gnomAD 10-94775060-C-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.401
- CADD 1.96
- PolyPhen-2 0.00
- SIFT 0.89
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.903
- Literature evidence available