R2220L (p.Arg2220Leu) variant of FBN1 (Fibrillin-1)
R2220L (p.Arg2220Leu) 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.
R2220L (p.Arg2220Leu) variant details
- p.Arg2220Leu
- rs780651466
- ClinGen CA392333562
- ClinVar RCV004013908
- ClinVar RCV005216186
- Uncertain significance
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- REVEL 0.82
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)