S54S (p.Ser54Ser) variant of ACTC1 (Actin, alpha cardiac muscle 1)
S54S (p.Ser54Ser) in ACTC1 (Actin, alpha cardiac muscle 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S54S (p.Ser54Ser) variant details
- p.Ser54Ser
- rs748909803
- gnomAD 15-34793537-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 14.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available