E23* (p.Glu23Ter) variant of ACTN2 (Alpha-actinin-2)
E23* (p.Glu23Ter) in ACTN2 (Alpha-actinin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
E23* (p.Glu23Ter) variant details
- p.Glu23Ter
- gnomAD 1-236686740-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.828
- CADD 37.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available