R1597W (p.Arg1597Trp) variant of VWF (von Willebrand factor)
R1597W (p.Arg1597Trp) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R1597W (p.Arg1597Trp) variant details
- p.Arg1597Trp
- rs61750117
- ClinGen CA114117
- ClinVar RCV000000309
- ClinVar RCV000086797
- Pathogenic
- Von Willebrand disease type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.75
- AlphaMissense 0.39
- MetaLR 0.86
- MetaSVM 1.04
- CADD 27.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Von Willebrand disease type 2A)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: The genetic basis of von Willebrand disease. (PMID 20409624)
- Cited in: Molecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA. (PMID 2786201)