L7I (p.Leu7Ile) variant of CYP2C19 (Cytochrome P450 2C19)
L7I (p.Leu7Ile) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L7I (p.Leu7Ile) variant details
- p.Leu7Ile
- ExAC rs764485894
- gnomAD rs764485894
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.13
- MetaLR 0.33
- MetaSVM -0.71
- CADD 12.70
- PolyPhen-2 0.83
- SIFT 0.02
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.0352