K52Q (p.Lys52Gln) variant of CYP2C19 (Cytochrome P450 2C19)
K52Q (p.Lys52Gln) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K52Q (p.Lys52Gln) variant details
- p.Lys52Gln
- TOPMed rs1433850136
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.07
- MetaLR 0.14
- MetaSVM -1.04
- CADD 16.20
- PolyPhen-2 0.03
- SIFT 0.22
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- CYP2C19 VAMP-seq synonymous scores: score 0.453