F1514C (p.Phe1514Cys) variant of VWF (von Willebrand factor)
F1514C (p.Phe1514Cys) 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 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
F1514C (p.Phe1514Cys) variant details
- p.Phe1514Cys
- rs61750101
- ClinGen CA114154
- ClinVar RCV000000331
- ClinVar RCV000086775
- Likely pathogenic
- Von Willebrand disease type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- AlphaMissense 0.97
- MetaLR 0.89
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (Von Willebrand disease type 2A)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Structural context available
- Cited in: The genetic basis of von Willebrand disease. (PMID 20409624)
- Cited in: Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a… (PMID 8435341)