E22D (p.Glu22Asp) variant of PPM1D (Protein phosphatase 1D)
E22D (p.Glu22Asp) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E22D (p.Glu22Asp) variant details
- p.Glu22Asp
- gnomAD 17-60600480-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.15
- MetaLR 0.10
- MetaSVM -1.08
- CADD 27.70
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available