G4R (p.Gly4Arg) variant of FBN1 (Fibrillin-1)
G4R (p.Gly4Arg) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome; not sp. The record also includes variant effect predictions and published literature.
G4R (p.Gly4Arg) variant details
- p.Gly4Arg
- rs1890263469
- ClinGen CA392454025
- ClinVar RCV001194178
- ClinVar RCV005225313
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome; not sp
- Missense
- AlphaMissense 0.15
- MetaLR 0.32
- MetaSVM -0.29
- SIFT 0.01
- MutPred 0.36
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)