Q44* (p.Gln44Ter) variant of CYP2C19 (Cytochrome P450 2C19)
Q44* (p.Gln44Ter) in CYP2C19 (Cytochrome P450 2C19) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q44* (p.Gln44Ter) variant details
- p.Gln44Ter
- ExAC rs747911797
- TOPMed rs747911797
- gnomAD rs747911797
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.9