E109R (p.Glu109Arg) variant of ACTA2 (Actin, aortic smooth muscle)
E109R (p.Glu109Arg) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from UniProt describe it as aortic aneurysm, familial thoracic 6. The record also includes published literature and structural context.
E109R (p.Glu109Arg) variant details
- p.Glu109Arg
- rs2133261333
- ClinGen CA2573145867
- ClinVar RCV002221951
- Aortic aneurysm, familial thoracic 6
- Missense
- UniProt: Aortic aneurysm, familial thoracic 6
- 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)