E52D (p.Glu52Asp) variant of PIK3R1 (P27986)
E52D (p.Glu52Asp) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
E52D (p.Glu52Asp) variant details
- p.Glu52Asp
- gnomAD 5-68226831-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.09
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available