L879R (p.Leu879Arg) variant of FBN1 (Fibrillin-1)
L879R (p.Leu879Arg) 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 and population frequency data.
L879R (p.Leu879Arg) variant details
- p.Leu879Arg
- TOPMed rs2043595042
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome
- Missense
- REVEL 0.92
- CADD 29.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available