E102E (p.Glu102Glu) variant of ACTA2 (Actin, aortic smooth muscle)
E102E (p.Glu102Glu) in ACTA2 (Actin, aortic smooth muscle) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E102E (p.Glu102Glu) variant details
- p.Glu102Glu
- gnomAD 10-88943860-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 9.79
- Population evidence available
- Structural context available
- Literature evidence available