R768Q (p.Arg768Gln) variant of VWF (von Willebrand factor)
R768Q (p.Arg768Gln) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R768Q (p.Arg768Gln) variant details
- p.Arg768Gln
- rs772203447
- ClinGen CA6403104
- NCI-TCGA Cosmic COSV5461
- ClinVar RCV000778379
- Likely pathogenic
- Hereditary von Willebrand disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.17
- MetaLR 0.07
- MetaSVM -1.08
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Likely pathogenic (Hereditary von Willebrand disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)