E67K (p.Glu67Lys) variant of VKORC1 (Q9BQB6)
E67K (p.Glu67Lys) in VKORC1 (Q9BQB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
E67K (p.Glu67Lys) variant details
- p.Glu67Lys
- gnomAD 16-31093396-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.65
- CADD 24.30
- PolyPhen-2 0.90
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available