S23* (p.Ser23Ter) variant of VKORC1 (Q9BQB6)
S23* (p.Ser23Ter) in VKORC1 (Q9BQB6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
S23* (p.Ser23Ter) variant details
- p.Ser23Ter
- cosmic curated COSV56232
- TOPMed rs1414049720
- gnomAD rs1414049720
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.845
- CADD 36.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available