D29E (p.Asp29Glu) variant of PIK3R2 (O00459)
D29E (p.Asp29Glu) in PIK3R2 (O00459) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D29E (p.Asp29Glu) variant details
- p.Asp29Glu
- ExAC rs771172565
- TOPMed rs771172565
- gnomAD rs771172565
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.21
- CADD 18.60
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available