R18G (p.Arg18Gly) variant of PPM1D (Protein phosphatase 1D)
R18G (p.Arg18Gly) in PPM1D (Protein phosphatase 1D) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R18G (p.Arg18Gly) variant details
- p.Arg18Gly
- gnomAD 17-60600462-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available