V1316M (p.Val1316Met) variant of VWF (von Willebrand factor)
V1316M (p.Val1316Met) 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 0.76 / 1. The record also includes published literature and structural context.
V1316M (p.Val1316Met) variant details
- p.Val1316Met
- rs61749397
- ClinGen CA114127
- ClinVar RCV000000314
- ClinVar RCV000086715
- Pathogenic
- Von Willebrand disease type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- AlphaMissense 0.45
- MetaLR 0.87
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.59
- ClinVar: Pathogenic (Von Willebrand disease type 2B)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Structural context available
- Cited in: Molecular study of von Willebrand disease: identification of potential mutations in patients with type IIA and type IIB. (PMID 1420817)
- Cited in: The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the… (PMID 1672694)