C13S (p.Cys13Ser) variant of CYP2C19 (Cytochrome P450 2C19)
C13S (p.Cys13Ser) in CYP2C19 (Cytochrome P450 2C19) is a missense change. Clinical records from ClinVar, EBI, 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 0.26 / 1. The record also includes population frequency data, experimental measurements, and structural context.
C13S (p.Cys13Ser) variant details
- p.Cys13Ser
- ExAC rs781038277
- TOPMed rs781038277
- gnomAD rs781038277
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.09
- MetaLR 0.20
- MetaSVM -0.90
- CADD 21.80
- PolyPhen-2 0.05
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.913