E23D (p.Glu23Asp) variant of ACTN2 (Alpha-actinin-2)
E23D (p.Glu23Asp) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E23D (p.Glu23Asp) variant details
- p.Glu23Asp
- gnomAD 1-236686742-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.10
- CADD 20.40
- PolyPhen-2 0.90
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available