D82D (p.Asp82Asp) variant of ACTC1 (Actin, alpha cardiac muscle 1)
D82D (p.Asp82Asp) in ACTC1 (Actin, alpha cardiac muscle 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
D82D (p.Asp82Asp) variant details
- p.Asp82Asp
- rs373261583
- gnomAD 15-34793453-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0884
- CADD 1.10
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Literature evidence available