E119E (p.Glu119Glu) variant of ACTA2 (Actin, aortic smooth muscle)
E119E (p.Glu119Glu) in ACTA2 (Actin, aortic smooth muscle) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E119E (p.Glu119Glu) variant details
- p.Glu119Glu
- rs756754618
- gnomAD 10-88943809-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 11.10
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Literature evidence available