G46D (p.Gly46Asp) variant of CYP2C9 (Cytochrome P450 2C9)
G46D (p.Gly46Asp) in CYP2C9 (Cytochrome P450 2C9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
G46D (p.Gly46Asp) variant details
- p.Gly46Asp
- cosmic curated COSV10729
- ExAC rs777883564
- TOPMed rs777883564
- gnomAD rs777883564
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.16
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available