C89S (p.Cys89Ser) variant of FBN1 (Fibrillin-1)
C89S (p.Cys89Ser) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MFS. The record also includes variant effect predictions and published literature.
C89S (p.Cys89Ser) variant details
- p.Cys89Ser
- rs112660651
- ClinGen CA013283
- ClinVar RCV000029715
- Ensembl rs112660651
- Pathogenic
- in MFS
- Missense
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.72
- SIFT 0.00
- MutPred 0.92
- 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)