Y66F (p.Tyr66Phe) variant of FBN1 (Fibrillin-1)
Y66F (p.Tyr66Phe) 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.
Y66F (p.Tyr66Phe) variant details
- p.Tyr66Phe
- rs774371494
- ClinGen CA046551
- ClinVar RCV003789273
- ExAC rs774371494
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome
- Missense
- REVEL 0.24
- AlphaMissense 0.14
- MetaLR 0.63
- MetaSVM 0.22
- CADD 26.30
- PolyPhen-2 0.96
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)