L57P (p.Leu57Pro) variant of CYP2C19 (Cytochrome P450 2C19)
L57P (p.Leu57Pro) in CYP2C19 (Cytochrome P450 2C19) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L57P (p.Leu57Pro) variant details
- p.Leu57Pro
- TOPMed rs1359362912
- gnomAD rs1359362912
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.66
- MetaLR 0.61
- MetaSVM 0.34
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.903