I66M (p.Ile66Met) variant of ACTC1 (Actin, alpha cardiac muscle 1)
I66M (p.Ile66Met) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
I66M (p.Ile66Met) variant details
- p.Ile66Met
- rs780724030
- ClinGen CA391631983
- ClinVar RCV002423800
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available