C68R (p.Cys68Arg) variant of FBN1 (Fibrillin-1)
C68R (p.Cys68Arg) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in ECTOL1. The record also includes variant effect predictions and published literature.
C68R (p.Cys68Arg) variant details
- p.Cys68Arg
- rs113604459
- ClinGen CA270060842
- ClinVar RCV000984036
- Ensembl rs113604459
- Likely pathogenic
- in ECTOL1
- Missense
- AlphaMissense 1.00
- MetaLR 0.63
- MetaSVM 0.21
- SIFT 0.00
- MutPred 0.64
- EBI: Likely pathogenic (in ECTOL1)
- UniProt: Likely pathogenic (in ECTOL1)
- 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)