C1190R (p.Cys1190Arg) variant of VWF (von Willebrand factor)
C1190R (p.Cys1190Arg) 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 0.92 / 1. The record also includes published literature and structural context.
C1190R (p.Cys1190Arg) variant details
- p.Cys1190Arg
- rs61749364
- ClinGen CA228423
- ClinVar RCV000086664
- ClinVar RCV000851643
- Pathogenic
- Von Willebrand disease type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 0.93
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Von Willebrand disease type 2A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)