C2773R (p.Cys2773Arg) variant of VWF (von Willebrand factor)
C2773R (p.Cys2773Arg) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Von Willebrand disease type 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
C2773R (p.Cys2773Arg) variant details
- p.Cys2773Arg
- rs61751310
- ClinGen CA114158
- ClinVar RCV000000333
- ClinVar RCV000086917
- Pathogenic
- Von Willebrand disease type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- AlphaMissense 0.90
- MetaLR 0.69
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Von Willebrand disease type 2A)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Structural context available
- Cited in: Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von… (PMID 16889557)
- Cited in: The genetic basis of von Willebrand disease. (PMID 20409624)