E18G (p.Glu18Gly) variant of PIK3R2 (O00459)
E18G (p.Glu18Gly) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E18G (p.Glu18Gly) variant details
- p.Glu18Gly
- gnomAD 19-18155932-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.22
- CADD 29.90
- PolyPhen-2 0.54
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available