R17Q (p.Arg17Gln) variant of PIK3R2 (O00459)
R17Q (p.Arg17Gln) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R17Q (p.Arg17Gln) variant details
- p.Arg17Gln
- ExAC rs755680940
- TOPMed rs755680940
- gnomAD rs755680940
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.17
- CADD 25.00
- PolyPhen-2 0.06
- SIFT 0.02
- Population evidence available
- Structural context available