K45R (p.Lys45Arg) variant of PRKCA (Protein kinase C alpha type)
K45R (p.Lys45Arg) 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 0.44 / 1. The record also includes population frequency data and structural context.
K45R (p.Lys45Arg) variant details
- p.Lys45Arg
- 1000Genomes rs200801878
- ExAC rs200801878
- TOPMed rs200801878
- gnomAD rs200801878
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.35
- CADD 23.10
- PolyPhen-2 0.33
- SIFT 0.32
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available