P3H (p.Pro3His) variant of CYP2C19 (Cytochrome P450 2C19)
P3H (p.Pro3His) in CYP2C19 (Cytochrome P450 2C19) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P3H (p.Pro3His) variant details
- p.Pro3His
- NCI-TCGA Cosmic COSV6490
- ExAC rs768096659
- TOPMed rs768096659
- gnomAD rs768096659
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.15
- MetaLR 0.39
- MetaSVM -0.49
- CADD 8.24
- PolyPhen-2 0.96
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 1.02