G47D (p.Gly47Asp) variant of FBN1 (Fibrillin-1)
G47D (p.Gly47Asp) 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. The record also includes variant effect predictions, population frequency data, and published literature.
G47D (p.Gly47Asp) variant details
- p.Gly47Asp
- rs2505821841
- ClinGen CA392453518
- ClinVar RCV004012998
- ClinVar RCV006550980
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome
- Missense
- REVEL 0.43
- MetaLR 0.62
- MetaSVM 0.20
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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)