E25G (p.Glu25Gly) variant of ACTN2 (Alpha-actinin-2)
E25G (p.Glu25Gly) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E25G (p.Glu25Gly) variant details
- p.Glu25Gly
- gnomAD 1-236686747-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.25
- CADD 24.90
- PolyPhen-2 0.03
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available