T122P (p.Thr122Pro) variant of ACTA2 (Actin, aortic smooth muscle)
T122P (p.Thr122Pro) in ACTA2 (Actin, aortic smooth muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
T122P (p.Thr122Pro) variant details
- p.Thr122Pro
- gnomAD 10-88943802-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.92
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available