G8E (p.Gly8Glu) variant of PPM1D (Protein phosphatase 1D)
G8E (p.Gly8Glu) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G8E (p.Gly8Glu) variant details
- p.Gly8Glu
- gnomAD 17-60600437-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.14
- MetaLR 0.04
- MetaSVM -1.11
- CADD 23.90
- PolyPhen-2 0.74
- SIFT 0.06
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available
- Literature evidence available