C1491F (p.Cys1491Phe) variant of FBN1 (Fibrillin-1)
C1491F (p.Cys1491Phe) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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.
C1491F (p.Cys1491Phe) variant details
- p.Cys1491Phe
- rs2141273076
- ClinGen CA392353806
- ClinVar RCV001374754
- ClinVar RCV003770359
- Pathogenic/Likely pathogenic
- Isolated thoracic aortic aneurysm; Familial thoracic aortic aneurysm and aortic
- Missense
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic/Likely pathogenic (Isolated thoracic aortic aneurysm; Familial thoracic aortic aneu)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)