E30G (p.Glu30Gly) variant of PPM1D (Protein phosphatase 1D)
E30G (p.Glu30Gly) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E30G (p.Glu30Gly) variant details
- p.Glu30Gly
- gnomAD 17-60600503-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.33
- AlphaMissense 0.07
- MetaLR 0.25
- MetaSVM -0.69
- CADD 25.10
- PolyPhen-2 0.06
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available
- Literature evidence available