I19L (p.Ile19Leu) variant of CYP2C19 (Cytochrome P450 2C19)
I19L (p.Ile19Leu) in CYP2C19 (Cytochrome P450 2C19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as drug response in the context of Sertraline response; Escitalopram response; Voriconazole response. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I19L (p.Ile19Leu) variant details
- p.Ile19Leu
- rs17882687
- ClinVar RCV000782425
- ClinVar RCV000783650
- ClinVar RCV000893758
- drug response
- Sertraline response; Escitalopram response; Voriconazole response
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.09
- MetaLR 0.03
- MetaSVM -0.94
- CADD 0.27
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: drug response (Sertraline response; Escitalopram response; Voriconazole respons)
- EBI: Benign (in allele CYP2C19*15)
- UniProt: Benign (in allele CYP2C19*15)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.0906
- Cited in: Identification and functional characterization of new potentially defective alleles of human CYP2C19. (PMID 12464799)