A9P (p.Ala9Pro) variant of ACTA2 (Actin, aortic smooth muscle)
A9P (p.Ala9Pro) in ACTA2 (Actin, aortic smooth muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
A9P (p.Ala9Pro) variant details
- p.Ala9Pro
- gnomAD rs1451974556
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.79
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available