C80G (p.Cys80Gly) variant of FBN1 (Fibrillin-1)
C80G (p.Cys80Gly) 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.
C80G (p.Cys80Gly) variant details
- p.Cys80Gly
- rs111764111
- ClinGen CA392448179
- ClinVar RCV000663534
- UniProt VAR 065981
- Pathogenic
- in MFS
- Missense
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.97
- SIFT 0.00
- MutPred 0.97
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Cited in: Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. (PMID 21542060)
- Cited in: Recommendations for physical activity and recreational sports participation for young patients with genetic… (PMID 15184297)