E30K (p.Glu30Lys) variant of PPM1D (Protein phosphatase 1D)
E30K (p.Glu30Lys) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- gnomAD 17-60600502-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.22
- MetaLR 0.34
- MetaSVM -0.38
- CADD 30.00
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available