W20C (p.Trp20Cys) variant of CYP2C19 (Cytochrome P450 2C19)
W20C (p.Trp20Cys) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
W20C (p.Trp20Cys) variant details
- p.Trp20Cys
- ExAC rs769429735
- TOPMed rs769429735
- gnomAD rs769429735
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.46
- MetaLR 0.40
- MetaSVM -0.13
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.806