Q68H (p.Gln68His) variant of PRKCA (Protein kinase C alpha type)
Q68H (p.Gln68His) 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 0.69 / 1. The record also includes population frequency data and structural context.
Q68H (p.Gln68His) variant details
- p.Gln68His
- ESP rs376921936
- TOPMed rs376921936
- gnomAD rs376921936
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.74
- CADD 27.30
- PolyPhen-2 0.22
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available