L16F (p.Leu16Phe) variant of CYP2C19 (Cytochrome P450 2C19)
L16F (p.Leu16Phe) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L16F (p.Leu16Phe) variant details
- p.Leu16Phe
- ESP rs147255955
- TOPMed rs147255955
- gnomAD rs147255955
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.04
- MetaLR 0.18
- MetaSVM -0.96
- CADD 17.30
- PolyPhen-2 0.42
- SIFT 0.51
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.947