E5D (p.Glu5Asp) variant of ACTN2 (Alpha-actinin-2)
E5D (p.Glu5Asp) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E5D (p.Glu5Asp) variant details
- p.Glu5Asp
- gnomAD 1-236686688-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.22
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available