G1609R (p.Gly1609Arg) variant of VWF (von Willebrand factor)
G1609R (p.Gly1609Arg) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G1609R (p.Gly1609Arg) variant details
- p.Gly1609Arg
- rs61750580
- ClinGen CA228665
- ClinVar RCV000086804
- ClinVar RCV002243743
- Pathogenic
- Von Willebrand disease type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.47
- CADD 23.70
- PolyPhen-2 0.95
- SIFT 0.03
- ClinVar: Pathogenic (Von Willebrand disease type 2A)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Identification of three candidate mutations causing type IIA von Willebrand disease using a rapid, nonradioactive… (PMID 8338947)
- Cited in: Two new candidate mutations in type IIA von Willebrand's disease (Arg834-->Gly, Gly846-->Arg) and one polymorphism… (PMID 8348943)