R18M (p.Arg18Met) variant of PPM1D (Protein phosphatase 1D)
R18M (p.Arg18Met) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R18M (p.Arg18Met) variant details
- p.Arg18Met
- gnomAD 17-60600467-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.46
- MetaLR 0.11
- MetaSVM -1.02
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available