L112L (p.Leu112Leu) variant of ACTA2 (Actin, aortic smooth muscle)
L112L (p.Leu112Leu) in ACTA2 (Actin, aortic smooth muscle) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L112L (p.Leu112Leu) variant details
- p.Leu112Leu
- gnomAD 10-88943830-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 12.30
- Population evidence available
- Structural context available
- Literature evidence available