R2464C (p.Arg2464Cys) variant of VWF (von Willebrand factor)
R2464C (p.Arg2464Cys) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of von Willebrand disorder; von Willebrand disease type 1; von Willebrand disease t. 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.
R2464C (p.Arg2464Cys) variant details
- p.Arg2464Cys
- rs61751286
- ClinGen CA228786
- NCI-TCGA Cosmic COSV5462
- ClinVar RCV000086880
- Pathogenic/Likely pathogenic
- von Willebrand disorder; von Willebrand disease type 1; von Willebrand disease t
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.40
- MetaLR 0.34
- MetaSVM -0.39
- CADD 29.10
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (von Willebrand disorder; von Willebrand disease type 1; von Will)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)