R760H (p.Arg760His) variant of VWF (von Willebrand factor)
R760H (p.Arg760His) 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 von Willebrand disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R760H (p.Arg760His) variant details
- p.Arg760His
- rs61748467
- ClinGen CA228316
- NCI-TCGA Cosmic COSV9977
- ClinVar RCV000024003
- Likely pathogenic
- von Willebrand disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.28
- MetaLR 0.22
- MetaSVM -0.72
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (von Willebrand disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von… (PMID 19687512)
- Cited in: Von Willebrand Disease. (PMID 20301765)