C494W (p.Cys494Trp) variant of FBN1 (Fibrillin-1)
C494W (p.Cys494Trp) 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 not provided; Marfan syndrome; Familial thoracic aortic aneurysm and aortic diss. The record also includes variant effect predictions, population frequency data, and published literature.
C494W (p.Cys494Trp) variant details
- p.Cys494Trp
- rs2505614094
- ClinGen CA392342799
- ClinVar RCV002801799
- ClinVar RCV006281072
- Pathogenic/Likely pathogenic
- not provided; Marfan syndrome; Familial thoracic aortic aneurysm and aortic diss
- Missense
- REVEL 0.94
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Marfan syndrome; Familial thoracic aortic aneurysm)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)