E30* (p.Glu30Ter) variant of PPM1D (Protein phosphatase 1D)
E30* (p.Glu30Ter) in PPM1D (Protein phosphatase 1D) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
E30* (p.Glu30Ter) variant details
- p.Glu30Ter
- gnomAD 17-60600502-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.846
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available