R1306W (p.Arg1306Trp) variant of VWF (von Willebrand factor)
R1306W (p.Arg1306Trp) 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 2B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
R1306W (p.Arg1306Trp) variant details
- p.Arg1306Trp
- rs61749384
- ClinGen CA114123
- ClinVar RCV000000312
- ClinVar RCV000086699
- Pathogenic
- Von Willebrand disease type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- AlphaMissense 0.17
- MetaLR 0.81
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.24
- ClinVar: Pathogenic (Von Willebrand disease type 2B)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Structural context available
- Cited in: Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and… (PMID 1419803)
- Cited in: Molecular study of von Willebrand disease: identification of potential mutations in patients with type IIA and type IIB. (PMID 1420817)