K28E (p.Lys28Glu) variant of CYP2C19 (Cytochrome P450 2C19)
K28E (p.Lys28Glu) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K28E (p.Lys28Glu) variant details
- p.Lys28Glu
- ExAC rs762085479
- TOPMed rs762085479
- gnomAD rs762085479
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -0.98
- CADD 16.30
- PolyPhen-2 0.05
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.99