E25E (p.Glu25Glu) variant of ACTN2 (Alpha-actinin-2)
E25E (p.Glu25Glu) in ACTN2 (Alpha-actinin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E25E (p.Glu25Glu) variant details
- p.Glu25Glu
- rs1210479277
- gnomAD 1-236686748-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 13.10
- Population evidence available
- Structural context available
- Literature evidence available