L9V (p.Leu9Val) variant of CYP2C19 (Cytochrome P450 2C19)
L9V (p.Leu9Val) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L9V (p.Leu9Val) variant details
- p.Leu9Val
- ExAC rs750431855
- gnomAD rs750431855
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.17
- MetaLR 0.19
- MetaSVM -0.90
- CADD 1.66
- PolyPhen-2 0.30
- SIFT 0.81
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.919