D93* (p.Asp93Ter) variant of VWF (von Willebrand factor)
D93* (p.Asp93Ter) in VWF (von Willebrand factor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
D93* (p.Asp93Ter) variant details
- p.Asp93Ter
- rs61753988
- ClinGen CA228364
- ClinVar RCV000086629
- ClinVar RCV002466428
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.595
- CADD 23.90
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)