M121* (p.Met121Ter) variant of ACTA2 (Actin, aortic smooth muscle)
M121* (p.Met121Ter) in ACTA2 (Actin, aortic smooth muscle) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
M121* (p.Met121Ter) variant details
- p.Met121Ter
- gnomAD 10-88943804-AT-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available