G1180R (p.Gly1180Arg) variant of VWF (von Willebrand factor)
G1180R (p.Gly1180Arg) 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 2A; Hereditary von Willebrand disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
G1180R (p.Gly1180Arg) variant details
- p.Gly1180Arg
- rs267607332
- ClinGen CA228421
- ClinVar RCV000086663
- ClinVar RCV001093531
- Likely pathogenic
- Von Willebrand disease type 2A; Hereditary von Willebrand disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- AlphaMissense 0.30
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.79
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)