I84V (p.Ile84Val) variant of FBN1 (Fibrillin-1)
I84V (p.Ile84Val) 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 and population frequency data.
I84V (p.Ile84Val) variant details
- p.Ile84Val
- TOPMed rs921420972
- gnomAD rs921420972
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome
- Missense
- REVEL 0.39
- CADD 23.40
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available