G2416E (p.Gly2416Glu) variant of FBN1 (Fibrillin-1)
G2416E (p.Gly2416Glu) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Isolated thoracic aortic aneurysm. The record also includes variant effect predictions.
G2416E (p.Gly2416Glu) variant details
- p.Gly2416Glu
- rs1555394442
- ClinGen CA392328764
- ClinVar RCV001374814
- Ensembl rs1555394442
- Likely pathogenic
- Isolated thoracic aortic aneurysm
- Missense
- AlphaMissense 1.00
- MetaLR 0.68
- MetaSVM 0.40
- SIFT 0.00
- MutPred 0.83
- ClinVar: Likely pathogenic (Isolated thoracic aortic aneurysm)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic