V1314L (p.Val1314Leu) variant of VWF (von Willebrand factor)
V1314L (p.Val1314Leu) 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 0.40 / 1. The record also includes published literature and structural context.
V1314L (p.Val1314Leu) variant details
- p.Val1314Leu
- rs61749393
- ClinGen CA114151
- ClinVar RCV000000329
- ClinVar RCV000087017
- Pathogenic
- Von Willebrand disease type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- AlphaMissense 0.31
- MetaLR 0.49
- MetaSVM -0.25
- PolyPhen-2 0.01
- SIFT 0.03
- EVE 0.11
- 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 genetic basis of von Willebrand disease. (PMID 20409624)