R86Q (p.Arg86Gln) variant of FBN1 (Fibrillin-1)
R86Q (p.Arg86Gln) 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.
R86Q (p.Arg86Gln) variant details
- p.Arg86Gln
- rs2044650738
- ClinGen CA392447159
- ClinVar RCV001990134
- ClinVar RCV004010981
- Uncertain significance
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- REVEL 0.53
- MetaLR 0.65
- MetaSVM 0.21
- CADD 31.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)