I27S (p.Ile27Ser) variant of PPM1D (Protein phosphatase 1D)
I27S (p.Ile27Ser) in PPM1D (Protein phosphatase 1D) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
I27S (p.Ile27Ser) variant details
- p.Ile27Ser
- gnomAD 17-60600490-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 29.40
- Population evidence available
- Structural context available
- Literature evidence available