K48Q (p.Lys48Gln) variant of CYP2C19 (Cytochrome P450 2C19)
K48Q (p.Lys48Gln) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K48Q (p.Lys48Gln) variant details
- p.Lys48Gln
- gnomAD 10-94762847-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.11
- MetaLR 0.22
- MetaSVM -0.82
- CADD 17.20
- PolyPhen-2 0.09
- SIFT 0.03
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 1.05
- Literature evidence available