E101E (p.Glu101Glu) variant of ACTA2 (Actin, aortic smooth muscle)
E101E (p.Glu101Glu) in ACTA2 (Actin, aortic smooth muscle) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
E101E (p.Glu101Glu) variant details
- p.Glu101Glu
- rs757977826
- gnomAD 10-88943863-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.157
- CADD 9.94
- Population evidence available
- Structural context available
- Literature evidence available