C59R (p.Cys59Arg) variant of FBN1 (Fibrillin-1)
C59R (p.Cys59Arg) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection. The record also includes variant effect predictions and published literature.
C59R (p.Cys59Arg) variant details
- p.Cys59Arg
- rs2140737589
- ClinGen CA392448513
- ClinVar RCV001963233
- Ensembl rs2140737589
- Pathogenic
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.79
- SIFT 0.00
- MutPred 0.82
- ClinVar: Pathogenic (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- 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)