C89F (p.Cys89Phe) variant of FBN1 (Fibrillin-1)
C89F (p.Cys89Phe) 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; Familial thoracic aortic aneurysm and aortic dissection; Marfan sy. The record also includes variant effect predictions and published literature.
C89F (p.Cys89Phe) variant details
- p.Cys89Phe
- rs112660651
- ClinGen CA270059115
- ClinVar RCV001215009
- ClinVar RCV001537030
- Pathogenic
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Marfan sy
- Missense
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.72
- SIFT 0.00
- MutPred 0.92
- ClinVar: Pathogenic (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Cited in: Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of… (PMID 11700157)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)