N77Y (p.Asn77Tyr) variant of VKORC1 (Q9BQB6)
N77Y (p.Asn77Tyr) in VKORC1 (Q9BQB6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
N77Y (p.Asn77Tyr) variant details
- p.Asn77Tyr
- rs755767348
- UniProt VAR 065796
- ExAC rs755767348
- TOPMed rs755767348
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.87
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in CMRES)
- UniProt: Pathogenic (in CMRES)
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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)