C628W (p.Cys628Trp) variant of FBN1 (Fibrillin-1)
C628W (p.Cys628Trp) 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.
C628W (p.Cys628Trp) variant details
- p.Cys628Trp
- rs150421653
- ClinGen CA392339111
- ClinVar RCV002246089
- ClinVar RCV002541220
- Pathogenic/Likely pathogenic
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection; not pr
- Missense
- AlphaMissense 1.00
- MetaLR 0.74
- MetaSVM 0.75
- SIFT 0.00
- MutPred 0.99
- 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)