G46D (p.Gly46Asp) variant of VKORC1 (Q9BQB6)
G46D (p.Gly46Asp) in VKORC1 (Q9BQB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G46D (p.Gly46Asp) variant details
- p.Gly46Asp
- TOPMed rs2057314958
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.76
- CADD 25.80
- PolyPhen-2 0.96
- SIFT 0.02
- Population evidence available
- Structural context available