Q104* (p.Gln104Ter) variant of VWF (von Willebrand factor)
Q104* (p.Gln104Ter) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Q104* (p.Gln104Ter) variant details
- p.Gln104Ter
- rs2136522699
- ClinGen CA383519226
- ClinVar RCV001787213
- Ensembl rs2136522699
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.753
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)