H28Q (p.His28Gln) variant of VKORC1 (Q9BQB6)
H28Q (p.His28Gln) in VKORC1 (Q9BQB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
H28Q (p.His28Gln) variant details
- p.His28Gln
- ExAC rs755256488
- TOPMed rs755256488
- gnomAD rs755256488
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.78
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available