Q44L (p.Gln44Leu) variant of CYP2C19 (Cytochrome P450 2C19)
Q44L (p.Gln44Leu) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q44L (p.Gln44Leu) variant details
- p.Gln44Leu
- Ensembl rs1848190969
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.24
- MetaLR 0.23
- MetaSVM -0.82
- CADD 16.10
- PolyPhen-2 0.09
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.9