A116A (p.Ala116Ala) variant of ACTA2 (Actin, aortic smooth muscle)
A116A (p.Ala116Ala) in ACTA2 (Actin, aortic smooth muscle) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A116A (p.Ala116Ala) variant details
- p.Ala116Ala
- rs2133261262
- gnomAD 10-88943818-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.378
- CADD 13.60
- Population evidence available
- Structural context available
- Literature evidence available