E102E (p.Glu102Glu) variant of ACTC1 (Actin, alpha cardiac muscle 1)
E102E (p.Glu102Glu) in ACTC1 (Actin, alpha cardiac muscle 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E102E (p.Glu102Glu) variant details
- p.Glu102Glu
- rs773112383
- gnomAD 15-34793393-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.494
- CADD 11.50
- Population evidence available
- Structural context available
- Literature evidence available