L16P (p.Leu16Pro) variant of FBN1 (Fibrillin-1)
L16P (p.Leu16Pro) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial thoracic aortic aneurysm and aortic dissection. The record also includes variant effect predictions and published literature.
L16P (p.Leu16Pro) variant details
- p.Leu16Pro
- rs1555407424
- ClinGen CA392453853
- ClinVar RCV003339221
- ClinVar RCV005051289
- Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- AlphaMissense 0.41
- MetaLR 0.47
- MetaSVM 0.22
- SIFT 0.00
- MutPred 0.52
- ClinVar: Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)