R760C (p.Arg760Cys) variant of VWF (von Willebrand factor)
R760C (p.Arg760Cys) 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 disease type 2N. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R760C (p.Arg760Cys) variant details
- p.Arg760Cys
- rs61748466
- ClinGen CA228314
- NCI-TCGA Cosmic COSV5461
- ClinVar RCV000086594
- Likely pathogenic
- von Willebrand disease type 2N
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.22
- MetaLR 0.08
- MetaSVM -0.98
- CADD 25.60
- PolyPhen-2 0.17
- SIFT 0.00
- ClinVar: Likely pathogenic (von Willebrand disease type 2N)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:YAKUT population (allele frequency 0.02)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)