E32Q (p.Glu32Gln) variant of PPM1D (Protein phosphatase 1D)
E32Q (p.Glu32Gln) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E32Q (p.Glu32Gln) variant details
- p.Glu32Gln
- gnomAD 17-60600508-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.16
- MetaLR 0.28
- MetaSVM -0.52
- CADD 26.80
- PolyPhen-2 0.94
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available