R1597Q (p.Arg1597Gln) variant of VWF (von Willebrand factor)
R1597Q (p.Arg1597Gln) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hereditary von Willebrand disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
R1597Q (p.Arg1597Gln) variant details
- p.Arg1597Gln
- rs61750577
- ClinGen CA228657
- ClinVar RCV000086799
- ClinVar RCV000852141
- Pathogenic
- not provided; Hereditary von Willebrand disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- AlphaMissense 0.73
- MetaLR 0.77
- MetaSVM 0.83
- PolyPhen-2 0.79
- SIFT 0.01
- EVE 0.47
- ClinVar: Pathogenic (not provided; Hereditary von Willebrand disease)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Structural context available
- Cited in: Identification of three candidate mutations causing type IIA von Willebrand disease using a rapid, nonradioactive… (PMID 8338947)
- Cited in: Von Willebrand Disease. (PMID 20301765)