P31H (p.Pro31His) variant of CYP2C19 (Cytochrome P450 2C19)
P31H (p.Pro31His) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P31H (p.Pro31His) variant details
- p.Pro31His
- TOPMed rs1354294789
- gnomAD rs1354294789
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.25
- MetaLR 0.38
- MetaSVM -0.05
- CADD 20.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.428