G42W (p.Gly42Trp) variant of CYP2D6 (Cytochrome P450 2D6)
G42W (p.Gly42Trp) in CYP2D6 (Cytochrome P450 2D6) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in allele CYP2D6*12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G42W (p.Gly42Trp) variant details
- p.Gly42Trp
- ESP rs5030862
- ExAC rs5030862
- TOPMed rs5030862
- gnomAD rs5030862
- Likely benign
- in allele CYP2D6*12
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- CADD 22.50
- PolyPhen-2 0.99
- SIFT 0.02
- EBI: Likely benign (in allele CYP2D6*12)
- UniProt: Likely benign (in allele CYP2D6*12)
- Population evidence available
- Structural context available