E24K (p.Glu24Lys) variant of PIK3R2 (O00459)
E24K (p.Glu24Lys) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E24K (p.Glu24Lys) variant details
- p.Glu24Lys
- gnomAD 19-18155949-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.22
- CADD 25.70
- PolyPhen-2 0.08
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available