A18P (p.Ala18Pro) variant of FBN1 (Fibrillin-1)
A18P (p.Ala18Pro) 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; not pr. The record also includes variant effect predictions and published literature.
A18P (p.Ala18Pro) variant details
- p.Ala18Pro
- rs1890262148
- ClinGen CA392453831
- ClinVar RCV001066526
- ClinVar RCV005232103
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome; not pr
- Missense
- AlphaMissense 0.32
- MetaLR 0.28
- MetaSVM -0.76
- SIFT 0.13
- MutPred 0.77
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- 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)