E105* (p.Glu105Ter) variant of PIK3CD (O00329)
E105* (p.Glu105Ter) in PIK3CD (O00329) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
E105* (p.Glu105Ter) variant details
- p.Glu105Ter
- rs1557659696
- gnomAD 1-9715710-G-GT
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.804
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available