I124del (p.Ile124del) variant of ACTA2 (Actin, aortic smooth muscle)
I124del (p.Ile124del) in ACTA2 (Actin, aortic smooth muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
I124del (p.Ile124del) variant details
- rs1193203168
- gnomAD 10-88941864-CATA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.734
- CADD 21.30
- Population evidence available
- Structural context available
- Literature evidence available