R3Q (p.Arg3Gln) variant of FBN1 (Fibrillin-1)
R3Q (p.Arg3Gln) 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; Familial thoracic aortic aneurysm and aortic dissection. The record also includes variant effect predictions, population frequency data, and published literature.
R3Q (p.Arg3Gln) variant details
- p.Arg3Gln
- rs149929989
- ClinGen CA392454032
- ClinVar RCV001998926
- ESP rs149929989
- Uncertain significance
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- REVEL 0.03
- MetaLR 0.37
- MetaSVM -0.68
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.36
- ClinVar: Uncertain significance (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- 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)