E22* (p.Glu22Ter) variant of PPM1D (Protein phosphatase 1D)
E22* (p.Glu22Ter) in PPM1D (Protein phosphatase 1D) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E22* (p.Glu22Ter) variant details
- p.Glu22Ter
- gnomAD 17-60600478-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.858
- CADD 39.00
- Population evidence available
- Structural context available
- Literature evidence available