L106L (p.Leu106Leu) variant of ACTA2 (Actin, aortic smooth muscle)
L106L (p.Leu106Leu) in ACTA2 (Actin, aortic smooth muscle) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L106L (p.Leu106Leu) variant details
- p.Leu106Leu
- rs1845900195
- gnomAD 10-88943848-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.58
- CADD 9.60
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available