G55E (p.Gly55Glu) variant of FBN1 (Fibrillin-1)
G55E (p.Gly55Glu) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Isolated thoracic aortic aneurysm; Familial thoracic aortic aneurysm and aortic. The record also includes variant effect predictions and published literature.
G55E (p.Gly55Glu) variant details
- p.Gly55Glu
- rs2140787387
- ClinGen CA392453404
- ClinVar RCV001374824
- ClinVar RCV002537626
- Likely pathogenic
- Isolated thoracic aortic aneurysm; Familial thoracic aortic aneurysm and aortic
- Missense
- AlphaMissense 0.99
- MetaLR 0.79
- MetaSVM 0.75
- SIFT 0.00
- MutPred 0.56
- ClinVar: Likely pathogenic (Isolated thoracic aortic aneurysm; Familial thoracic aortic aneu)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Cited in: Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic… (PMID 22772377)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)