F4L (p.Phe4Leu) variant of CYP2C19 (Cytochrome P450 2C19)
F4L (p.Phe4Leu) 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 0.09 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F4L (p.Phe4Leu) variant details
- p.Phe4Leu
- rs367543003
- ClinVar RCV000782428
- 1000Genomes rs367543003
- ExAC rs367543003
- drug response
- Voriconazole response; Citalopram response; Sertraline response
- Missense
- Variant Prioritization Score for Impact Estimate 0.0935
- REVEL 0.06
- MetaLR 0.08
- MetaSVM -0.93
- CADD 0.82
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: drug response (Voriconazole response; Citalopram response; Sertraline response)
- EBI: Drug response
- UniProt: Drug response
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 1.01