E18* (p.Glu18Ter) variant of PIK3R2 (O00459)
E18* (p.Glu18Ter) in PIK3R2 (O00459) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
E18* (p.Glu18Ter) variant details
- p.Glu18Ter
- gnomAD 19-18155931-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.867
- CADD 39.00
- Population evidence available
- Structural context available
- Literature evidence available