E25del (p.Glu25del) variant of ACTN2 (Alpha-actinin-2)
E25del (p.Glu25del) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
E25del (p.Glu25del) variant details
- rs1255354051
- gnomAD 1-236686737-CAGG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 22.20
- Population evidence available
- Structural context available
- Literature evidence available