L16F (p.Leu16Phe) variant of FBN1 (Fibrillin-1)
L16F (p.Leu16Phe) 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; not pr. The record also includes variant effect predictions, population frequency data, and published literature.
L16F (p.Leu16Phe) variant details
- p.Leu16Phe
- rs982368209
- ClinGen CA270085545
- ClinVar RCV001524466
- ClinVar RCV001762715
- Uncertain significance
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection; not pr
- Missense
- REVEL 0.29
- AlphaMissense 0.06
- MetaLR 0.39
- MetaSVM -0.32
- CADD 22.70
- PolyPhen-2 0.05
- ClinVar: Uncertain significance (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)