C1060R (p.Cys1060Arg) variant of VWF (von Willebrand factor)
C1060R (p.Cys1060Arg) 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 2N. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
C1060R (p.Cys1060Arg) variant details
- p.Cys1060Arg
- rs61748497
- ClinGen CA114176
- ClinVar RCV000000345
- ClinVar RCV000086640
- Pathogenic
- von Willebrand disease type 2N
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic (von Willebrand disease type 2N)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Structural context available
- Cited in: Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A. (PMID 12406074)
- Cited in: von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor… (PMID 1409710)