S2179F (p.Ser2179Phe) variant of VWF (von Willebrand factor)
S2179F (p.Ser2179Phe) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of von Willebrand disorder; not provided; von Willebrand disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S2179F (p.Ser2179Phe) variant details
- p.Ser2179Phe
- rs61750620
- ClinGen CA228746
- ClinVar RCV000086854
- ClinVar RCV002264668
- Pathogenic/Likely pathogenic
- von Willebrand disorder; not provided; von Willebrand disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.69
- MetaLR 0.55
- MetaSVM 0.19
- CADD 26.20
- PolyPhen-2 0.52
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (von Willebrand disorder; not provided; von Willebrand disease ty)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)