E5* (p.Glu5Ter) variant of ACTN2 (Alpha-actinin-2)
E5* (p.Glu5Ter) in ACTN2 (Alpha-actinin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
E5* (p.Glu5Ter) variant details
- p.Glu5Ter
- gnomAD 1-236686686-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.842
- CADD 39.00
- Population evidence available
- Structural context available
- Literature evidence available