S95* (p.Ser95Ter) variant of FBN1 (Fibrillin-1)
S95* (p.Ser95Ter) in FBN1 (Fibrillin-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and published literature.
S95* (p.Ser95Ter) variant details
- p.Ser95Ter
- rs922684362
- ClinGen CA392447031
- ClinVar RCV002272603
- ClinVar RCV005227561
- Pathogenic
- Stop Gained
- AlphaMissense 0.98
- MetaLR 0.71
- MetaSVM 0.52
- SIFT 0.01
- MutPred 0.48
- EBI: Pathogenic
- UniProt: 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)