D27E (p.Asp27Glu) variant of ACTC1 (Actin, alpha cardiac muscle 1)
D27E (p.Asp27Glu) 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 not provided. The record also includes structural context.
D27E (p.Asp27Glu) variant details
- p.Asp27Glu
- rs753552901
- ClinGen CA391633194
- ClinVar RCV003141176
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available