A29V (p.Ala29Val) variant of PIK3CG (P48736)
A29V (p.Ala29Val) in PIK3CG (P48736) is a missense change. Clinical records from ClinVar 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 0.15 / 1. The record also includes population frequency data and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10078
- Ensembl rs1790341417
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.04
- MetaLR 0.21
- MetaSVM -0.88
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available