G17E (p.Gly17Glu) variant of PPM1D (Protein phosphatase 1D)
G17E (p.Gly17Glu) 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.
G17E (p.Gly17Glu) variant details
- p.Gly17Glu
- gnomAD 17-60600464-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.34
- MetaLR 0.07
- MetaSVM -1.11
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available