C1562R (p.Cys1562Arg) variant of FBN1 (Fibrillin-1)
C1562R (p.Cys1562Arg) 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; Acromicric dysplasia. The record also includes variant effect predictions and published literature.
C1562R (p.Cys1562Arg) variant details
- p.Cys1562Arg
- rs193922207
- ClinGen CA392352978
- ClinVar RCV002249986
- ClinVar RCV002337414
- Pathogenic/Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Acromicric dysplasia
- Missense
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.92
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic/Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Acromic)
- 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)