L17P (p.Leu17Pro) variant of CYP2C19 (Cytochrome P450 2C19)
L17P (p.Leu17Pro) 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 Voriconazole response; Citalopram response; Sertraline response. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L17P (p.Leu17Pro) variant details
- p.Leu17Pro
- rs55752064
- ClinVar RCV000783662
- UniProt VAR 021268
- Ensembl rs55752064
- drug response
- Voriconazole response; Citalopram response; Sertraline response
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.42
- MetaLR 0.37
- MetaSVM -0.69
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: drug response (Voriconazole response; Citalopram response; Sertraline response)
- EBI: Benign (in allele CYP2C19*14)
- UniProt: Benign (in allele CYP2C19*14)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- CYP2C19 VAMP-seq synonymous scores: score 1.13
- Cited in: Identification and functional characterization of new potentially defective alleles of human CYP2C19. (PMID 12464799)