Y20* (p.Tyr20Ter) variant of PPM1D (Protein phosphatase 1D)
Y20* (p.Tyr20Ter) in PPM1D (Protein phosphatase 1D) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Y20* (p.Tyr20Ter) variant details
- p.Tyr20Ter
- gnomAD 17-60600474-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available