E21K (p.Glu21Lys) variant of PIK3R2 (O00459)
E21K (p.Glu21Lys) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- gnomAD 19-18155940-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.26
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available