L67L (p.Leu67Leu) variant of ACTC1 (Actin, alpha cardiac muscle 1)
L67L (p.Leu67Leu) in ACTC1 (Actin, alpha cardiac muscle 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L67L (p.Leu67Leu) variant details
- p.Leu67Leu
- rs1440918499
- gnomAD 15-34793500-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.502
- CADD 13.40
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available