C16S (p.Cys16Ser) variant of VKORC1 (Q9BQB6)
C16S (p.Cys16Ser) 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.
C16S (p.Cys16Ser) variant details
- p.Cys16Ser
- TOPMed rs1386462679
- gnomAD rs1386462679
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.84
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available