E23G (p.Glu23Gly) variant of ACTN2 (Alpha-actinin-2)
E23G (p.Glu23Gly) 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.
E23G (p.Glu23Gly) variant details
- p.Glu23Gly
- gnomAD 1-236686741-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.26
- CADD 25.10
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available