E25K (p.Glu25Lys) variant of ACTN2 (Alpha-actinin-2)
E25K (p.Glu25Lys) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E25K (p.Glu25Lys) variant details
- p.Glu25Lys
- gnomAD 1-236686746-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.31
- CADD 26.60
- PolyPhen-2 0.02
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available