S95L (p.Ser95Leu) variant of FBN1 (Fibrillin-1)
S95L (p.Ser95Leu) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Marfan syndrome; Familial thoracic aortic aneurysm and aortic diss. The record also includes variant effect predictions, population frequency data, and published literature.
S95L (p.Ser95Leu) variant details
- p.Ser95Leu
- rs922684362
- ClinGen CA270059090
- NCI-TCGA Cosmic COSV1003
- ClinVar RCV001187889
- Uncertain significance
- not provided; Marfan syndrome; Familial thoracic aortic aneurysm and aortic diss
- Missense
- REVEL 0.51
- CADD 29.20
- PolyPhen-2 0.97
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Marfan syndrome; Familial thoracic aortic aneurysm)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)