Q123* (p.Gln123Ter) variant of ACTA2 (Actin, aortic smooth muscle)
Q123* (p.Gln123Ter) in ACTA2 (Actin, aortic smooth muscle) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
Q123* (p.Gln123Ter) variant details
- p.Gln123Ter
- rs1845899288
- ClinGen CA377512781
- ClinVar RCV001296490
- ClinVar RCV001559987
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 43.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)