D141N (p.Asp141Asn) variant of VWF (von Willebrand factor)
D141N (p.Asp141Asn) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary von Willebrand disease; von Willebrand disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
D141N (p.Asp141Asn) variant details
- p.Asp141Asn
- rs61753992
- ClinGen CA228557
- ClinVar RCV000086743
- ClinVar RCV000852120
- Pathogenic/Likely pathogenic
- Hereditary von Willebrand disease; von Willebrand disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- MutPred 0.79
- ClinVar: Pathogenic/Likely pathogenic (Hereditary von Willebrand disease; von Willebrand disease type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)