R27Q (p.Arg27Gln) variant of PRKCB (Protein kinase C beta type)
R27Q (p.Arg27Gln) in PRKCB (Protein kinase C beta type) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
R27Q (p.Arg27Gln) variant details
- p.Arg27Gln
- rs1378724342
- TOPMed rs1378724342
- gnomAD rs1378724342
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available