N5T (p.Asn5Thr) variant of PIK3CG (P48736)
N5T (p.Asn5Thr) 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 0.18 / 1. The record also includes population frequency data and structural context.
N5T (p.Asn5Thr) variant details
- p.Asn5Thr
- ExAC rs757965197
- TOPMed rs757965197
- gnomAD rs757965197
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.19
- MetaLR 0.12
- MetaSVM -1.02
- CADD 8.16
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available