E36G (p.Glu36Gly) variant of PPM1D (Protein phosphatase 1D)
E36G (p.Glu36Gly) 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 and structural context.
E36G (p.Glu36Gly) variant details
- p.Glu36Gly
- gnomAD rs2030180948
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.05
- AlphaMissense 0.65
- MetaLR 0.44
- MetaSVM -0.29
- CADD 22.80
- PolyPhen-2 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available