K43* (p.Lys43Ter) variant of FBN1 (Fibrillin-1)
K43* (p.Lys43Ter) 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.
K43* (p.Lys43Ter) variant details
- p.Lys43Ter
- rs751270801
- ClinGen CA392453566
- ClinVar RCV001380300
- ClinVar RCV001508395
- Pathogenic
- Stop Gained
- AlphaMissense 0.96
- MetaLR 0.32
- MetaSVM -0.52
- SIFT 0.02
- MutPred 0.41
- 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)