G1629R (p.Gly1629Arg) variant of VWF (von Willebrand factor)
G1629R (p.Gly1629Arg) 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 published literature and structural context.
G1629R (p.Gly1629Arg) variant details
- p.Gly1629Arg
- rs61750585
- ClinGen CA383498765
- ClinVar RCV002244527
- ClinVar RCV005859358
- Pathogenic
- Von Willebrand disease type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- AlphaMissense 0.86
- MetaLR 0.90
- MetaSVM 1.07
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.52
- ClinVar: Pathogenic (Von Willebrand disease type 2A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)