R10P (p.Arg10Pro) variant of PIK3R2 (O00459)
R10P (p.Arg10Pro) in PIK3R2 (O00459) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R10P (p.Arg10Pro) variant details
- p.Arg10Pro
- TOPMed rs1371555508
- gnomAD rs1371555508
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.29
- CADD 29.10
- PolyPhen-2 0.85
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available