E15K (p.Glu15Lys) variant of PRKCB (Protein kinase C beta type)
E15K (p.Glu15Lys) in PRKCB (Protein kinase C beta 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 0.63 / 1. The record also includes population frequency data and structural context.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- TOPMed rs1313793731
- gnomAD rs1313793731
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 24.30
- PolyPhen-2 0.55
- SIFT 0.60
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available