F1369L (p.Phe1369Leu) variant of VWF (von Willebrand factor)
F1369L (p.Phe1369Leu) 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 Hereditary von Willebrand disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
F1369L (p.Phe1369Leu) variant details
- p.Phe1369Leu
- rs61750069
- ClinGen CA383505291
- ClinVar RCV000852114
- TOPMed rs61750069
- Likely pathogenic
- Hereditary von Willebrand disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.69
- MetaLR 0.94
- MetaSVM 1.08
- CADD 7.82
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary von Willebrand disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)