V9E (p.Val9Glu) variant of PPM1D (Protein phosphatase 1D)
V9E (p.Val9Glu) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V9E (p.Val9Glu) variant details
- p.Val9Glu
- gnomAD 17-60600440-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.24
- MetaLR 0.07
- MetaSVM -1.15
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available