C19S (p.Cys19Ser) variant of ACTA2 (Actin, aortic smooth muscle)
C19S (p.Cys19Ser) 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. The record also includes published literature and structural context.
C19S (p.Cys19Ser) variant details
- p.Cys19Ser
- rs2494578654
- ClinGen CA377513734
- ClinVar RCV003518313
- Uncertain significance
- Aortic aneurysm, familial thoracic 6
- Missense
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 6)
- 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)