L16I (p.Leu16Ile) variant of CYP2C19 (Cytochrome P450 2C19)
L16I (p.Leu16Ile) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L16I (p.Leu16Ile) variant details
- p.Leu16Ile
- ESP rs147255955
- TOPMed rs147255955
- gnomAD rs147255955
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.12
- MetaLR 0.24
- MetaSVM -0.86
- CADD 17.90
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.947