A29T (p.Ala29Thr) variant of PIK3CG (P48736)
A29T (p.Ala29Thr) in PIK3CG (P48736) 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 0.19 / 1. The record also includes population frequency data and structural context.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- TOPMed rs1790341270
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.05
- MetaLR 0.14
- MetaSVM -1.01
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.57
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available