G32E (p.Gly32Glu) variant of FBN1 (Fibrillin-1)
G32E (p.Gly32Glu) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Marfan syndrome. The record also includes variant effect predictions and published literature.
G32E (p.Gly32Glu) variant details
- p.Gly32Glu
- rs2140787667
- ClinGen CA392453661
- ClinVar RCV001771179
- ClinVar RCV004009025
- Uncertain significance
- not provided; Marfan syndrome
- Missense
- AlphaMissense 0.08
- MetaLR 0.27
- MetaSVM -0.75
- SIFT 0.29
- MutPred 0.39
- ClinVar: Uncertain significance (not provided; 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)