P132Q (p.Pro132Gln) variant of ACTA2 (Actin, aortic smooth muscle)
P132Q (p.Pro132Gln) in ACTA2 (Actin, aortic smooth muscle) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P132Q (p.Pro132Gln) variant details
- p.Pro132Gln
- gnomAD 10-88941843-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available