C2773S (p.Cys2773Ser) variant of VWF (von Willebrand factor)
C2773S (p.Cys2773Ser) 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 0.76 / 1. The record also includes structural context.
C2773S (p.Cys2773Ser) variant details
- p.Cys2773Ser
- rs61751311
- ClinGen CA228847
- ClinVar RCV000086918
- ClinVar RCV004821275
- Pathogenic
- Von Willebrand disease type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- AlphaMissense 0.89
- MetaLR 0.71
- MetaSVM 0.66
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (Von Willebrand disease type 2A)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Structural context available