C476Y (p.Cys476Tyr) variant of FBN1 (Fibrillin-1)
C476Y (p.Cys476Tyr) 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; Marfan syndrome. The record also includes variant effect predictions, population frequency data, and published literature.
C476Y (p.Cys476Tyr) variant details
- p.Cys476Tyr
- rs2043792070
- ClinGen CA392343747
- ClinVar RCV001245896
- ClinVar RCV004619587
- Pathogenic/Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome
- Missense
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- 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)