E78K (p.Glu78Lys) variant of PIK3CD (O00329)
E78K (p.Glu78Lys) in PIK3CD (O00329) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PIK3CD-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E78K (p.Glu78Lys) variant details
- p.Glu78Lys
- rs1647287408
- ClinGen CA338300147
- ClinVar RCV003397758
- TOPMed rs1647287408
- Uncertain significance
- PIK3CD-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- AlphaMissense 0.23
- MetaLR 0.42
- MetaSVM -0.36
- PolyPhen-2 0.76
- SIFT 0.23
- EVE 0.37
- ClinVar: Uncertain significance (PIK3CD-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available