P83L (p.Pro83Leu) variant of FBN1 (Fibrillin-1)
P83L (p.Pro83Leu) 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 and published literature.
P83L (p.Pro83Leu) variant details
- p.Pro83Leu
- rs1206249804
- ClinGen CA392447206
- ClinVar RCV001366224
- gnomAD rs1206249804
- Uncertain significance
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- AlphaMissense 1.00
- MetaLR 0.76
- MetaSVM 0.65
- SIFT 0.00
- MutPred 0.59
- ClinVar: Uncertain significance (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)