N528S (p.Asn528Ser) variant of VWF (von Willebrand factor)
N528S (p.Asn528Ser) 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 record also includes variant effect predictions, population frequency data, published literature, and structural context.
N528S (p.Asn528Ser) variant details
- p.Asn528Ser
- rs61754010
- ClinGen CA114178
- ClinVar RCV000000346
- ClinVar RCV000086569
- Pathogenic
- Von Willebrand disease type 2A
- Missense
- MutPred 0.63
- ClinVar: Pathogenic (Von Willebrand disease type 2A)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Population evidence available
- Structural context available
- Cited in: The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF. (PMID 20335223)
- Cited in: Investigation of type IIC von Willebrand disease. (PMID 8011991)