S1543F (p.Ser1543Phe) variant of VWF (von Willebrand factor)
S1543F (p.Ser1543Phe) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary von Willebrand disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
S1543F (p.Ser1543Phe) variant details
- p.Ser1543Phe
- rs267607344
- ClinGen CA228628
- ClinVar RCV000086782
- ClinVar RCV002222391
- Pathogenic
- Hereditary von Willebrand disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- AlphaMissense 0.90
- MetaLR 0.81
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic (Hereditary von Willebrand disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)