E36K (p.Glu36Lys) variant of PPM1D (Protein phosphatase 1D)
E36K (p.Glu36Lys) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- gnomAD 17-60600520-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.11
- MetaLR 0.09
- MetaSVM -0.94
- CADD 23.10
- PolyPhen-2 0.17
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available