T68I (p.Thr68Ile) variant of ACTA2 (Actin, aortic smooth muscle)
T68I (p.Thr68Ile) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscle dysfunction sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
T68I (p.Thr68Ile) variant details
- p.Thr68Ile
- rs1060500132
- ClinGen CA16613189
- ClinVar RCV000473817
- ClinVar RCV005044655
- Uncertain significance
- Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscle dysfunction sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.88
- CADD 24.90
- PolyPhen-2 0.87
- SIFT 0.07
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)