P56L (p.Pro56Leu) variant of FBN1 (Fibrillin-1)
P56L (p.Pro56Leu) 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. The record also includes variant effect predictions, population frequency data, and published literature.
P56L (p.Pro56Leu) variant details
- p.Pro56Leu
- rs1262119022
- ClinGen CA392448530
- ClinVar RCV001524898
- TOPMed rs1262119022
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- REVEL 0.80
- MetaLR 0.70
- MetaSVM 0.50
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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)