R1341W (p.Arg1341Trp) variant of VWF (von Willebrand factor)
R1341W (p.Arg1341Trp) 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 2B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R1341W (p.Arg1341Trp) variant details
- p.Arg1341Trp
- rs61749402
- ClinGen CA228514
- NCI-TCGA Cosmic COSV5462
- ClinVar RCV000086720
- Pathogenic
- Von Willebrand disease type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.89
- MetaLR 0.97
- MetaSVM 1.08
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Von Willebrand disease type 2B)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)