T21A (p.Thr21Ala) variant of FBN1 (Fibrillin-1)
T21A (p.Thr21Ala) 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. The record also includes variant effect predictions and population frequency data.
T21A (p.Thr21Ala) variant details
- p.Thr21Ala
- ExAC rs777027225
- gnomAD rs777027225
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- REVEL 0.28
- MetaLR 0.24
- MetaSVM -0.92
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.59
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)