E5* (p.Glu5Ter) variant of PIK3R2 (O00459)
E5* (p.Glu5Ter) in PIK3R2 (O00459) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E5* (p.Glu5Ter) variant details
- p.Glu5Ter
- gnomAD 19-18155892-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.717
- CADD 40.00
- Population evidence available
- Structural context available
- Literature evidence available