T14I (p.Thr14Ile) variant of FBN1 (Fibrillin-1)
T14I (p.Thr14Ile) 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.
T14I (p.Thr14Ile) variant details
- p.Thr14Ile
- TOPMed rs1357901401
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome
- Missense
- REVEL 0.24
- MetaLR 0.41
- MetaSVM -0.51
- CADD 22.50
- SIFT 0.08
- 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)