G60E (p.Gly60Glu) variant of FBN1 (Fibrillin-1)
G60E (p.Gly60Glu) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Marfan syndrome. The record also includes variant effect predictions and published literature.
G60E (p.Gly60Glu) variant details
- p.Gly60Glu
- rs139788702
- ClinGen CA392448504
- ClinVar RCV004008231
- Uncertain significance
- Marfan syndrome
- Missense
- AlphaMissense 0.89
- MetaLR 0.65
- MetaSVM 0.28
- SIFT 0.03
- MutPred 0.37
- ClinVar: Uncertain significance (Marfan syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)