R1399C (p.Arg1399Cys) variant of VWF (von Willebrand factor)
R1399C (p.Arg1399Cys) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of von Willebrand disease type 2M. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R1399C (p.Arg1399Cys) variant details
- p.Arg1399Cys
- rs61750077
- ClinGen CA228555
- ClinVar RCV000086742
- ClinVar RCV000852119
- Pathogenic
- von Willebrand disease type 2M
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.71
- MetaLR 0.78
- MetaSVM 0.69
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic (von Willebrand disease type 2M)
- EBI: Pathogenic (in dbSNP:rs1800382)
- UniProt: Pathogenic (in dbSNP:rs1800382)
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)