S6* (p.Ser6Ter) variant of PPM1D (Protein phosphatase 1D)
S6* (p.Ser6Ter) 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.
S6* (p.Ser6Ter) variant details
- p.Ser6Ter
- gnomAD 17-60600431-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.849
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available