E37K (p.Glu37Lys) variant of PPM1D (Protein phosphatase 1D)
E37K (p.Glu37Lys) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E37K (p.Glu37Lys) variant details
- p.Glu37Lys
- gnomAD 17-60600523-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.03
- MetaLR 0.10
- MetaSVM -0.91
- CADD 24.10
- PolyPhen-2 0.05
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available