C570S (p.Cys570Ser) variant of FBN1 (Fibrillin-1)
C570S (p.Cys570Ser) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ectopia lentis 1, isolated, autosomal dominant. The record also includes variant effect predictions and published literature.
C570S (p.Cys570Ser) variant details
- p.Cys570Ser
- rs1555400049
- ClinGen CA392340924
- ClinVar RCV001975072
- Ensembl rs1555400049
- Pathogenic
- Ectopia lentis 1, isolated, autosomal dominant
- Missense
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.92
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (Ectopia lentis 1, isolated, autosomal dominant)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- 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)