E56Q (p.Glu56Gln) variant of PIK3CD (O00329)
E56Q (p.Glu56Gln) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E56Q (p.Glu56Gln) variant details
- p.Glu56Gln
- gnomAD 1-9715565-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.23
- CADD 24.20
- PolyPhen-2 0.94
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available