C1149R (p.Cys1149Arg) variant of VWF (von Willebrand factor)
C1149R (p.Cys1149Arg) 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 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
C1149R (p.Cys1149Arg) variant details
- p.Cys1149Arg
- rs61748511
- ClinGen CA228410
- ClinVar RCV000000337
- ClinVar RCV000086657
- Pathogenic
- Von Willebrand disease type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.97
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Von Willebrand disease type 2A)
- EBI: Pathogenic (in VWD1)
- UniProt: Pathogenic (in VWD1)
- Most common in the Non-Finnish European population (allele frequency 3.8e-06)
- Structural context available
- Cited in: Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a… (PMID 11698279)
- Cited in: Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor. (PMID 8839833)