Q44H (p.Gln44His) variant of CYP2C19 (Cytochrome P450 2C19)
Q44H (p.Gln44His) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q44H (p.Gln44His) variant details
- p.Gln44His
- gnomAD rs1358202408
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.24
- MetaLR 0.40
- MetaSVM -0.60
- CADD 9.71
- PolyPhen-2 0.12
- SIFT 0.02
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.9