E5D (p.Glu5Asp) variant of PIK3R2 (O00459)
E5D (p.Glu5Asp) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E5D (p.Glu5Asp) variant details
- p.Glu5Asp
- gnomAD 19-18155894-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.06
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available