T791M (p.Thr791Met) variant of VWF (von Willebrand factor)
T791M (p.Thr791Met) 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 2N. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
T791M (p.Thr791Met) variant details
- p.Thr791Met
- rs61748477
- ClinGen CA114135
- ClinVar RCV000000318
- ClinVar RCV000086606
- Pathogenic
- von Willebrand disease type 2N
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.87
- MetaLR 0.90
- MetaSVM 1.05
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (von Willebrand disease type 2N)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available
- Cited in: Expression of von Willebrand factor "Normandy": an autosomal mutation that mimics hemophilia A. (PMID 1906179)
- Cited in: The "Normandy" variant of von Willebrand disease: characterization of a point mutation in the von Willebrand factor… (PMID 2018834)