E78G (p.Glu78Gly) variant of PIK3CD (O00329)
E78G (p.Glu78Gly) in PIK3CD (O00329) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E78G (p.Glu78Gly) variant details
- p.Glu78Gly
- gnomAD 1-9715629-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.732
- CADD 26.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available