E24D (p.Glu24Asp) variant of ACTN2 (Alpha-actinin-2)
E24D (p.Glu24Asp) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E24D (p.Glu24Asp) variant details
- p.Glu24Asp
- gnomAD rs1189880689
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.05
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.56
- Population evidence available
- Structural context available