W1120S (p.Trp1120Ser) variant of VWF (von Willebrand factor)
W1120S (p.Trp1120Ser) 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 2; Hereditary von Willebrand disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
W1120S (p.Trp1120Ser) variant details
- p.Trp1120Ser
- rs267607321
- ClinGen CA228396
- ClinVar RCV000086649
- ClinVar RCV000851636
- Likely pathogenic
- von Willebrand disease type 2; Hereditary von Willebrand disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.85
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (von Willebrand disease type 2; Hereditary von Willebrand disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)