T105P (p.Thr105Pro) variant of ACTA2 (Actin, aortic smooth muscle)
T105P (p.Thr105Pro) in ACTA2 (Actin, aortic smooth muscle) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
T105P (p.Thr105Pro) variant details
- p.Thr105Pro
- gnomAD 10-88943852-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.815
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available