C2265R (p.Cys2265Arg) variant of FBN1 (Fibrillin-1)
C2265R (p.Cys2265Arg) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Marfan syndrome; Familial thoracic aortic aneurysm and aortic diss. The record also includes variant effect predictions and published literature.
C2265R (p.Cys2265Arg) variant details
- p.Cys2265Arg
- rs1057522272
- ClinGen CA392332505
- ClinVar RCV003323184
- ClinVar RCV005227986
- Pathogenic
- not provided; Marfan syndrome; Familial thoracic aortic aneurysm and aortic diss
- Missense
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- SIFT 0.00
- MutPred 0.90
- ClinVar: Pathogenic (not provided; Marfan syndrome; Familial thoracic aortic aneurysm)
- 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)