C57* (p.Cys57Ter) variant of VWF (von Willebrand factor)
C57* (p.Cys57Ter) in VWF (von Willebrand factor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
C57* (p.Cys57Ter) variant details
- p.Cys57Ter
- rs61753987
- ClinGen CA228282
- ClinVar RCV000086573
- gnomAD rs61753987
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.85
- MutPred 0.85
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available