T105I (p.Thr105Ile) variant of ACTA2 (Actin, aortic smooth muscle)
T105I (p.Thr105Ile) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Aortic aneurysm, familial thoracic 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
T105I (p.Thr105Ile) variant details
- p.Thr105Ile
- TOPMed rs1343660153
- gnomAD rs1343660153
- Uncertain significance
- Aortic aneurysm, familial thoracic 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.51
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.23
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 6)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available