E18K (p.Glu18Lys) variant of PIK3R2 (O00459)
E18K (p.Glu18Lys) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E18K (p.Glu18Lys) variant details
- p.Glu18Lys
- TOPMed rs1437113802
- gnomAD rs1437113802
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.26
- CADD 29.30
- PolyPhen-2 0.45
- SIFT 0.00
- Population evidence available
- Structural context available