N57H (p.Asn57His) variant of FBN1 (Fibrillin-1)
N57H (p.Asn57His) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection; not pr. The record also includes variant effect predictions, population frequency data, and published literature.
N57H (p.Asn57His) variant details
- p.Asn57His
- rs2044669685
- ClinGen CA392448527
- ClinVar RCV002223465
- ClinVar RCV004808233
- Conflicting interpretations
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection; not pr
- Missense
- REVEL 0.71
- AlphaMissense 0.95
- MetaLR 0.74
- MetaSVM 0.67
- CADD 26.70
- PolyPhen-2 0.99
- ClinVar: Conflicting classifications of pathogenicity (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)