R1374C (p.Arg1374Cys) variant of VWF (von Willebrand factor)
R1374C (p.Arg1374Cys) 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 disorder; not provided; von Willebrand disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R1374C (p.Arg1374Cys) variant details
- p.Arg1374Cys
- rs61750071
- ClinGen CA228539
- ClinVar RCV000086734
- ClinVar RCV000678770
- Pathogenic
- von Willebrand disorder; not provided; von Willebrand disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.76
- AlphaMissense 0.71
- MetaLR 0.98
- MetaSVM 1.06
- CADD 27.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic (von Willebrand disorder; not provided; von Willebrand disease ty)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for… (PMID 7620154)
- Cited in: Von Willebrand Disease. (PMID 20301765)