G4W (p.Gly4Trp) variant of FBN1 (Fibrillin-1)
G4W (p.Gly4Trp) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome. The record also includes variant effect predictions and published literature.
G4W (p.Gly4Trp) variant details
- p.Gly4Trp
- rs1890263469
- ClinGen CA392454023
- ClinVar RCV001524673
- ClinVar RCV005213535
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome
- Missense
- AlphaMissense 0.15
- MetaLR 0.32
- MetaSVM -0.29
- SIFT 0.01
- MutPred 0.36
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)