E21D (p.Glu21Asp) variant of PIK3R2 (O00459)
E21D (p.Glu21Asp) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E21D (p.Glu21Asp) variant details
- p.Glu21Asp
- gnomAD 19-18155942-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.12
- CADD 23.70
- PolyPhen-2 0.97
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available