G48G (p.Gly48Gly) variant of ACTC1 (Actin, alpha cardiac muscle 1)
G48G (p.Gly48Gly) in ACTC1 (Actin, alpha cardiac muscle 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
G48G (p.Gly48Gly) variant details
- p.Gly48Gly
- gnomAD 15-34793555-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 9.70
- SIFT 0.01
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available