C80R (p.Cys80Arg) variant of FBN1 (Fibrillin-1)
C80R (p.Cys80Arg) 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/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Diss. The record also includes variant effect predictions and published literature.
C80R (p.Cys80Arg) variant details
- p.Cys80Arg
- rs111764111
- ClinGen CA270060796
- ClinVar RCV001240636
- ClinVar RCV006372351
- Pathogenic/Likely pathogenic
- Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Diss
- Missense
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.97
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic/Likely pathogenic (Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic An)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- 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)