E102D (p.Glu102Asp) variant of ACTA2 (Actin, aortic smooth muscle)
E102D (p.Glu102Asp) in ACTA2 (Actin, aortic smooth muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E102D (p.Glu102Asp) variant details
- p.Glu102Asp
- gnomAD 10-88943860-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.63
- CADD 16.90
- PolyPhen-2 0.03
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available