I84V (p.Ile84Val) variant of FBN1 (Fibrillin-1)
I84V (p.Ile84Val) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar 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
- MetaLR 0.58
- MetaSVM -0.06
- CADD 23.40
- SIFT 0.00
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)