C59F (p.Cys59Phe) variant of FBN1 (Fibrillin-1)
C59F (p.Cys59Phe) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes variant effect predictions and published literature.
C59F (p.Cys59Phe) variant details
- p.Cys59Phe
- rs1555405673
- ClinGen CA392448511
- ClinVar RCV000663490
- Ensembl rs1555405673
- Likely pathogenic
- Missense
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.94
- SIFT 0.00
- MutPred 0.84
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)