E5G (p.Glu5Gly) variant of ACTN2 (Alpha-actinin-2)
E5G (p.Glu5Gly) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E5G (p.Glu5Gly) variant details
- p.Glu5Gly
- gnomAD 1-236686687-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.27
- CADD 25.30
- PolyPhen-2 0.03
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available