D96E (p.Asp96Glu) variant of PRKCA (Protein kinase C alpha type)
D96E (p.Asp96Glu) in PRKCA (Protein kinase C alpha type) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of PRKCA-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D96E (p.Asp96Glu) variant details
- p.Asp96Glu
- ESP rs375714097
- ExAC rs375714097
- TOPMed rs375714097
- gnomAD rs375714097
- Uncertain significance
- PRKCA-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.32
- CADD 15.40
- ClinVar: Uncertain significance (PRKCA-related disorder)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available