G7E (p.Gly7Glu) variant of PRKCB (Protein kinase C beta type)
G7E (p.Gly7Glu) 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 0.67 / 1. The record also includes population frequency data and structural context.
G7E (p.Gly7Glu) variant details
- p.Gly7Glu
- Ensembl rs1962150664
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- CADD 22.90
- PolyPhen-2 0.09
- SIFT 0.23
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available