A29P (p.Ala29Pro) variant of PIK3CG (P48736)
A29P (p.Ala29Pro) in PIK3CG (P48736) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
A29P (p.Ala29Pro) variant details
- p.Ala29Pro
- TOPMed rs1790341270
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.09
- MetaLR 0.14
- MetaSVM -0.97
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available