E18D (p.Glu18Asp) variant of PIK3R2 (O00459)
E18D (p.Glu18Asp) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E18D (p.Glu18Asp) variant details
- p.Glu18Asp
- gnomAD 19-18155933-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.04
- CADD 20.10
- PolyPhen-2 0.01
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available