N57S (p.Asn57Ser) variant of FBN1 (Fibrillin-1)
N57S (p.Asn57Ser) 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 specified; not provided; Familial thoracic aortic aneurysm and aortic dissec. The record also includes variant effect predictions, population frequency data, and published literature.
N57S (p.Asn57Ser) variant details
- p.Asn57Ser
- rs2044669666
- ClinGen CA392448525
- ClinVar RCV001176000
- ClinVar RCV001202339
- Uncertain significance
- not specified; not provided; Familial thoracic aortic aneurysm and aortic dissec
- Missense
- REVEL 0.59
- MetaLR 0.72
- MetaSVM 0.59
- CADD 25.90
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; not provided; Familial thoracic aortic aneurysm a)
- EBI: Variant of uncertain significance (in MFS)
- UniProt: Uncertain significance (in MFS)
- Most common in the South Asian population (allele frequency 0.00044)
- 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)