R118P (p.Arg118Pro) variant of ACTA2 (Actin, aortic smooth muscle)
R118P (p.Arg118Pro) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AAT6. The record also includes structural context.
R118P (p.Arg118Pro) variant details
- p.Arg118Pro
- ExAC rs112602953
- gnomAD rs112602953
- Pathogenic
- in AAT6
- Missense
- EBI: Pathogenic (in AAT6)
- UniProt: Pathogenic (in AAT6)
- Structural context available