V45A (p.Val45Ala) variant of VKORC1 (Q9BQB6)
V45A (p.Val45Ala) in VKORC1 (Q9BQB6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Warfarin response. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
V45A (p.Val45Ala) variant details
- p.Val45Ala
- rs104894540
- ClinGen CA115413
- ClinVar RCV000002292
- UniProt VAR 021822
- Pathogenic
- Warfarin response
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.88
- CADD 24.60
- PolyPhen-2 0.80
- SIFT 0.09
- ClinVar: Pathogenic (Warfarin response)
- EBI: Pathogenic (in CMRES)
- UniProt: Pathogenic (in CMRES)
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. (PMID 14765194)
- Cited in: Thirteen novel VKORC1 mutations associated with oral anticoagulant resistance: insights into improved patient diagnosis… (PMID 20946155)