A60A (p.Ala60Ala) variant of ACTC1 (Actin, alpha cardiac muscle 1)
A60A (p.Ala60Ala) in ACTC1 (Actin, alpha cardiac muscle 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A60A (p.Ala60Ala) variant details
- p.Ala60Ala
- rs370322510
- gnomAD 15-34793519-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.472
- CADD 13.30
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available