C1577Y (p.Cys1577Tyr) variant of FBN1 (Fibrillin-1)
C1577Y (p.Cys1577Tyr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection; not pr. The record also includes variant effect predictions and population frequency data.
C1577Y (p.Cys1577Tyr) variant details
- p.Cys1577Tyr
- gnomAD rs1396017880
- Pathogenic/Likely pathogenic
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection; not pr
- Missense
- REVEL 0.95
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Pathogenic (in SSKS)
- UniProt: Pathogenic (in SSKS)
- Population evidence available