A2E (p.Ala2Glu) variant of PIK3R2 (O00459)
A2E (p.Ala2Glu) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- TOPMed rs978235304
- gnomAD rs978235304
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.14
- CADD 24.30
- PolyPhen-2 0.45
- SIFT 0.00
- Population evidence available
- Structural context available