C2232S (p.Cys2232Ser) variant of FBN1 (Fibrillin-1)
C2232S (p.Cys2232Ser) 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. The record also includes variant effect predictions and published literature.
C2232S (p.Cys2232Ser) variant details
- p.Cys2232Ser
- rs1060501054
- ClinGen CA392333387
- ClinVar RCV001509487
- ClinVar RCV002246022
- Pathogenic
- not provided; Marfan syndrome
- Missense
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- SIFT 0.00
- MutPred 0.93
- ClinVar: Pathogenic (Marfan syndrome)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Cited in: Recommendations for physical activity and recreational sports participation for young patients with genetic… (PMID 15184297)
- Cited in: Guidelines for the diagnosis and management of Marfan syndrome. (PMID 17188935)