R41P (p.Arg41Pro) variant of FBN1 (Fibrillin-1)
R41P (p.Arg41Pro) 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.
R41P (p.Arg41Pro) variant details
- p.Arg41Pro
- rs1890259872
- ClinGen CA392453588
- ClinVar RCV001870661
- TOPMed rs1890259872
- Uncertain significance
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- AlphaMissense 0.85
- MetaLR 0.42
- MetaSVM -0.35
- SIFT 0.00
- MutPred 0.50
- 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)