S52* (p.Ser52Ter) variant of VKORC1 (Q9BQB6)
S52* (p.Ser52Ter) in VKORC1 (Q9BQB6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
S52* (p.Ser52Ter) variant details
- p.Ser52Ter
- ExAC rs769806539
- TOPMed rs769806539
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.874
- CADD 41.00
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available