D1363V (p.Asp1363Val) variant of FBN1 (Fibrillin-1)
D1363V (p.Asp1363Val) 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.
D1363V (p.Asp1363Val) variant details
- p.Asp1363Val
- rs2043402890
- ClinGen CA392320380
- ClinVar RCV001203787
- Ensembl rs2043402890
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome
- Missense
- REVEL 0.98
- CADD 27.70
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)