C67F (p.Cys67Phe) variant of FBN1 (Fibrillin-1)
C67F (p.Cys67Phe) 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; not pr. The record also includes variant effect predictions and published literature.
C67F (p.Cys67Phe) variant details
- p.Cys67Phe
- rs2044669166
- ClinGen CA392448442
- ClinVar RCV001225352
- ClinVar RCV001812259
- Pathogenic/Likely pathogenic
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection; not pr
- Missense
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 1.04
- SIFT 0.00
- MutPred 0.91
- ClinVar: Pathogenic/Likely 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)