D36E (p.Asp36Glu) variant of PRKCA (Protein kinase C alpha type)
D36E (p.Asp36Glu) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D36E (p.Asp36Glu) variant details
- p.Asp36Glu
- TOPMed rs1904592218
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.17
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available