L11V (p.Leu11Val) variant of FBN1 (Fibrillin-1)
L11V (p.Leu11Val) 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; not sp. The record also includes variant effect predictions, population frequency data, and published literature.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- rs762468661
- ClinGen CA050021
- ClinVar RCV003528092
- ClinVar RCV003779314
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome; not sp
- Missense
- REVEL 0.19
- MetaLR 0.52
- MetaSVM -0.20
- CADD 23.80
- PolyPhen-2 0.57
- SIFT 0.37
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)