E67D (p.Glu67Asp) variant of VKORC1 (Q9BQB6)
E67D (p.Glu67Asp) in VKORC1 (Q9BQB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E67D (p.Glu67Asp) variant details
- p.Glu67Asp
- gnomAD 16-31093394-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.62
- CADD 19.90
- PolyPhen-2 0.93
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available