R1205C (p.Arg1205Cys) variant of VWF (von Willebrand factor)
R1205C (p.Arg1205Cys) 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; not provided; Hereditary von Willebrand disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R1205C (p.Arg1205Cys) variant details
- p.Arg1205Cys
- rs373787920
- ClinGen CA6402724
- ClinVar RCV000851647
- ClinVar RCV002274046
- Pathogenic/Likely pathogenic
- von Willebrand disorder; not provided; Hereditary von Willebrand disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.27
- CADD 27.20
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (von Willebrand disorder; not provided; Hereditary von Willebrand)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)