P1824R (p.Pro1824Arg) variant of VWF (von Willebrand factor)
P1824R (p.Pro1824Arg) 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 0.75 / 1. The record also includes published literature and structural context.
P1824R (p.Pro1824Arg) variant details
- p.Pro1824Arg
- rs61750610
- ClinGen CA383493882
- ClinVar RCV000852158
- TOPMed rs61750610
- Likely pathogenic
- Hereditary von Willebrand disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- AlphaMissense 0.92
- MetaLR 0.76
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Likely pathogenic (Hereditary von Willebrand disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)