E56E (p.Glu56Glu) variant of PIK3CD (O00329)
E56E (p.Glu56Glu) in PIK3CD (O00329) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E56E (p.Glu56Glu) variant details
- p.Glu56Glu
- gnomAD 1-9715567-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 12.30
- Population evidence available
- Structural context available
- Literature evidence available