W71G (p.Trp71Gly) variant of FBN1 (Fibrillin-1)
W71G (p.Trp71Gly) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome. The record also includes variant effect predictions and published literature.
W71G (p.Trp71Gly) variant details
- p.Trp71Gly
- rs1555405658
- ClinGen CA392448386
- ClinVar RCV001963595
- Ensembl rs1555405658
- Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome
- Missense
- AlphaMissense 1.00
- MetaLR 0.81
- MetaSVM 0.80
- SIFT 0.00
- MutPred 0.86
- ClinVar: Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)