C582Y (p.Cys582Tyr) variant of FBN1 (Fibrillin-1)
C582Y (p.Cys582Tyr) 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 Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection; Ectopi. The record also includes variant effect predictions and published literature.
C582Y (p.Cys582Tyr) variant details
- p.Cys582Tyr
- rs2141321627
- ClinGen CA392340556
- ClinVar RCV002030926
- ClinVar RCV006605368
- Pathogenic/Likely pathogenic
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection; Ectopi
- Missense
- AlphaMissense 1.00
- MetaLR 0.74
- MetaSVM 0.78
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic/Likely pathogenic (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)