D23E (p.Asp23Glu) variant of PPM1D (Protein phosphatase 1D)
D23E (p.Asp23Glu) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D23E (p.Asp23Glu) variant details
- p.Asp23Glu
- gnomAD 17-60600483-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.23
- MetaLR 0.22
- MetaSVM -0.71
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available