N77S (p.Asn77Ser) variant of VKORC1 (Q9BQB6)
N77S (p.Asn77Ser) in VKORC1 (Q9BQB6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Vitamin K-dependent clotting factors, combined deficiency of, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
N77S (p.Asn77Ser) variant details
- p.Asn77Ser
- rs2057303532
- UniProt VAR 065795
- TOPMed rs2057303532
- gnomAD rs2057303532
- Uncertain significance
- Vitamin K-dependent clotting factors, combined deficiency of, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.75
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Vitamin K-dependent clotting factors, combined deficiency of, ty)
- EBI: Pathogenic (in CMRES)
- UniProt: Pathogenic (in CMRES)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Thirteen novel VKORC1 mutations associated with oral anticoagulant resistance: insights into improved patient diagnosis… (PMID 20946155)
- Cited in: Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. (PMID 14765194)