S61P (p.Ser61Pro) variant of FBN1 (Fibrillin-1)
S61P (p.Ser61Pro) 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.
S61P (p.Ser61Pro) variant details
- p.Ser61Pro
- rs1166519673
- ClinGen CA392448501
- ClinVar RCV001185571
- ClinVar RCV004008539
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome
- Missense
- REVEL 0.69
- MetaLR 0.72
- MetaSVM 0.51
- CADD 29.10
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)