R44S (p.Arg44Ser) variant of FBN1 (Fibrillin-1)
R44S (p.Arg44Ser) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection. The record also includes variant effect predictions and published literature.
R44S (p.Arg44Ser) variant details
- p.Arg44Ser
- rs1890259134
- ClinGen CA392453543
- ClinVar RCV001189597
- ClinVar RCV001863000
- Uncertain significance
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- AlphaMissense 0.99
- MetaLR 0.58
- MetaSVM 0.17
- SIFT 0.10
- MutPred 0.49
- ClinVar: Uncertain significance (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)