N33S (p.Asn33Ser) variant of FBN1 (Fibrillin-1)
N33S (p.Asn33Ser) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome. The record also includes variant effect predictions, population frequency data, and published literature.
N33S (p.Asn33Ser) variant details
- p.Asn33Ser
- rs2140787661
- ClinGen CA392453654
- ClinVar RCV002023627
- Ensembl rs2140787661
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome
- Missense
- REVEL 0.10
- MetaLR 0.24
- MetaSVM -0.89
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)