C2483Y (p.Cys2483Tyr) variant of FBN1 (Fibrillin-1)
C2483Y (p.Cys2483Tyr) 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 Familial thoracic aortic aneurysm and aortic dissection; Isolated thoracic aorti. The record also includes variant effect predictions and published literature.
C2483Y (p.Cys2483Tyr) variant details
- p.Cys2483Tyr
- rs1555394390
- ClinGen CA392327509
- ClinVar RCV001374813
- ClinVar RCV001880027
- Pathogenic/Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Isolated thoracic aorti
- Missense
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- SIFT 0.01
- MutPred 0.99
- ClinVar: Pathogenic/Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Isolate)
- 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)