E18* (p.Glu18Ter) variant of ACTN2 (Alpha-actinin-2)
E18* (p.Glu18Ter) 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.
E18* (p.Glu18Ter) variant details
- p.Glu18Ter
- gnomAD 1-236686725-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.836
- CADD 38.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available