N57D (p.Asn57Asp) variant of FBN1 (Fibrillin-1)
N57D (p.Asn57Asp) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection. The record also includes variant effect predictions and published literature.
N57D (p.Asn57Asp) variant details
- p.Asn57Asp
- rs2044669685
- ClinGen CA392448528
- ClinVar RCV001317674
- UniProt VAR 075986
- Pathogenic
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- AlphaMissense 0.95
- MetaLR 0.74
- MetaSVM 0.67
- SIFT 0.06
- MutPred 0.54
- ClinVar: Pathogenic (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Cited in: Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. (PMID 19533785)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)