S28* (p.Ser28Ter) variant of PRKCH (Protein kinase C eta type)
S28* (p.Ser28Ter) 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.
S28* (p.Ser28Ter) variant details
- p.Ser28Ter
- rs2140122354
- gnomAD 14-61327066-C-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 17.27
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- Structural context available
- Literature evidence available