N56H (p.Asn56His) variant of CYP2C19 (Cytochrome P450 2C19)
N56H (p.Asn56His) 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, and structural context.
N56H (p.Asn56His) variant details
- p.Asn56His
- TOPMed rs1848191817
- gnomAD rs1848191817
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.16
- MetaLR 0.21
- MetaSVM -0.86
- CADD 9.81
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.977