I73T (p.Ile73Thr) variant of ACTA2 (Actin, aortic smooth muscle)
I73T (p.Ile73Thr) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Aortic aneurysm, familial thoracic 6; Familial thoracic aortic aneurysm and aort. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
I73T (p.Ile73Thr) variant details
- p.Ile73Thr
- rs2494570485
- ClinGen CA377513368
- ClinVar RCV003320030
- ClinVar RCV006548516
- Conflicting interpretations
- Aortic aneurysm, familial thoracic 6; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.94
- CADD 27.70
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Aortic aneurysm, familial thoracic 6; Familial thoracic aortic a)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-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)