D36Y (p.Asp36Tyr) variant of VKORC1 (Q9BQB6)
D36Y (p.Asp36Tyr) in VKORC1 (Q9BQB6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as drug response in the context of warfarin response - Dosage. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
D36Y (p.Asp36Tyr) variant details
- p.Asp36Tyr
- rs61742245
- ClinGen CA115418
- ClinVar RCV000002296
- ClinVar RCV001115529
- drug response
- warfarin response - Dosage
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.65
- CADD 24.90
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: drug response (warfarin response - Dosage)
- EBI: Pathogenic (in CMRES)
- UniProt: Pathogenic (in CMRES)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: A coding VKORC1 Asp36Tyr polymorphism predisposes to warfarin resistance. (PMID 17110455)
- Cited in: Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the… (PMID 18252229)