W1313C (p.Trp1313Cys) variant of VWF (von Willebrand factor)
W1313C (p.Trp1313Cys) 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 2B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
W1313C (p.Trp1313Cys) variant details
- p.Trp1313Cys
- rs61749392
- ClinGen CA114121
- ClinVar RCV000000311
- ClinVar RCV000086709
- Likely pathogenic
- Von Willebrand disease type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- AlphaMissense 0.53
- MetaLR 0.88
- MetaSVM 0.84
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.09
- ClinVar: Likely pathogenic (Von Willebrand disease type 2B)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Structural context available
- Cited in: Identification of a point mutation in type IIB von Willebrand disease illustrating the regulation of von Willebrand… (PMID 2011604)
- Cited in: The genetic basis of von Willebrand disease. (PMID 20409624)