P30L (p.Pro30Leu) variant of CYP2C19 (Cytochrome P450 2C19)
P30L (p.Pro30Leu) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- ExAC rs750669985
- TOPMed rs750669985
- gnomAD rs750669985
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.20
- MetaLR 0.67
- MetaSVM -0.16
- CADD 18.70
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.319