R34* (p.Arg34Ter) variant of VWF (von Willebrand factor)
R34* (p.Arg34Ter) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R34* (p.Arg34Ter) variant details
- p.Arg34Ter
- rs61753984
- ClinGen CA228255
- NCI-TCGA Cosmic COSV1043
- NCI-TCGA Cosmic COSV5463
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)