E24D (p.Glu24Asp) variant of PIK3R2 (O00459)
E24D (p.Glu24Asp) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E24D (p.Glu24Asp) variant details
- p.Glu24Asp
- gnomAD 19-18155951-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.21
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available