C804F (p.Cys804Phe) variant of VWF (von Willebrand factor)
C804F (p.Cys804Phe) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of von Willebrand disease type 2N. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
C804F (p.Cys804Phe) variant details
- p.Cys804Phe
- rs62643630
- ClinGen CA114168
- ClinVar RCV000000341
- ClinVar RCV000086609
- Likely pathogenic
- von Willebrand disease type 2N
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- MutPred 0.84
- ClinVar: Likely pathogenic (von Willebrand disease type 2N)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene. (PMID 15461624)