H1268D (p.His1268Asp) variant of VWF (von Willebrand factor)
H1268D (p.His1268Asp) 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 0.36 / 1. The record also includes published literature and structural context.
H1268D (p.His1268Asp) variant details
- p.His1268Asp
- rs61749371
- ClinGen CA228445
- ClinVar RCV000086678
- ClinVar RCV002243726
- Pathogenic
- Von Willebrand disease type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- AlphaMissense 0.18
- MetaLR 0.18
- MetaSVM -0.82
- PolyPhen-2 0.79
- SIFT 0.50
- EVE 0.16
- ClinVar: Pathogenic (Von Willebrand disease type 2B)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Structural context available
- Cited in: Type IIB mutation His-505-->Asp implicates a new segment in the control of von Willebrand factor binding to platelet… (PMID 8376405)
- Cited in: Von Willebrand Disease. (PMID 20301765)