R18S (p.Arg18Ser) variant of PPM1D (Protein phosphatase 1D)
R18S (p.Arg18Ser) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R18S (p.Arg18Ser) variant details
- p.Arg18Ser
- gnomAD 17-60600468-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.28
- MetaLR 0.10
- MetaSVM -1.06
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available