R1308C (p.Arg1308Cys) variant of VWF (von Willebrand factor)
R1308C (p.Arg1308Cys) 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 2B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
R1308C (p.Arg1308Cys) variant details
- p.Arg1308Cys
- rs61749387
- ClinGen CA114125
- ClinVar RCV000000313
- ClinVar RCV000086703
- Pathogenic
- Von Willebrand disease type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- AlphaMissense 0.18
- MetaLR 0.61
- MetaSVM 0.47
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.21
- ClinVar: Pathogenic (Von Willebrand disease type 2B)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Structural context available
- Cited in: Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and… (PMID 1419803)
- Cited in: The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the… (PMID 1672694)