A116T (p.Ala116Thr) variant of ACTA2 (Actin, aortic smooth muscle)
A116T (p.Ala116Thr) in ACTA2 (Actin, aortic smooth muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A116T (p.Ala116Thr) variant details
- p.Ala116Thr
- gnomAD 10-88943820-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.77
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available