M121I (p.Met121Ile) variant of ACTA2 (Actin, aortic smooth muscle)
M121I (p.Met121Ile) in ACTA2 (Actin, aortic smooth muscle) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
M121I (p.Met121Ile) variant details
- p.Met121Ile
- gnomAD 10-88943798-TGAGT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.685
- CADD 33.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available