G48E (p.Gly48Glu) variant of FBN1 (Fibrillin-1)
G48E (p.Gly48Glu) 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, population frequency data, and published literature.
G48E (p.Gly48Glu) variant details
- p.Gly48Glu
- rs1317580009
- ClinGen CA392453506
- ClinVar RCV002710502
- TOPMed rs1317580009
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome
- Missense
- AlphaMissense 0.58
- MetaLR 0.69
- MetaSVM 0.36
- SIFT 0.20
- MutPred 0.37
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)