G21E (p.Gly21Glu) variant of PRKCH (Protein kinase C eta type)
G21E (p.Gly21Glu) in PRKCH (Protein kinase C eta type) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G21E (p.Gly21Glu) variant details
- p.Gly21Glu
- gnomAD 14-61327066-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 17.50
- Population evidence available
- Structural context available
- Literature evidence available