L17S (p.Leu17Ser) variant of FBN1 (Fibrillin-1)
L17S (p.Leu17Ser) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and published literature.
L17S (p.Leu17Ser) variant details
- p.Leu17Ser
- rs794728201
- ClinGen CA015646
- ClinVar RCV000181478
- ClinVar RCV001351547
- Uncertain significance
- Missense
- AlphaMissense 0.17
- MetaLR 0.31
- MetaSVM -0.72
- SIFT 0.23
- MutPred 0.56
- 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)