S2* (p.Ser2Ter) variant of PRKCH (Protein kinase C eta type)
S2* (p.Ser2Ter) in PRKCH (Protein kinase C eta type) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
S2* (p.Ser2Ter) variant details
- p.Ser2Ter
- gnomAD 14-61322106-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.69
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available