G48E (p.Gly48Glu) variant of ACTA2 (Actin, aortic smooth muscle)
G48E (p.Gly48Glu) 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; Familial thoracic aortic aneurysm and aort. The record also includes published literature and structural context.
G48E (p.Gly48Glu) variant details
- p.Gly48Glu
- rs2494571084
- ClinGen CA377513539
- ClinVar RCV003338958
- ClinVar RCV003517486
- Uncertain significance
- Aortic aneurysm, familial thoracic 6; Familial thoracic aortic aneurysm and aort
- Missense
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 6; Familial thoracic aortic a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)