A110T (p.Ala110Thr) variant of ACTA2 (Actin, aortic smooth muscle)
A110T (p.Ala110Thr) in ACTA2 (Actin, aortic smooth muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
A110T (p.Ala110Thr) variant details
- p.Ala110Thr
- TOPMed rs1392926771
- gnomAD rs1392926771
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.90
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available