E119K (p.Glu119Lys) variant of ACTA2 (Actin, aortic smooth muscle)
E119K (p.Glu119Lys) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E119K (p.Glu119Lys) variant details
- p.Glu119Lys
- Ensembl rs867537284
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available