G3E (p.Gly3Glu) variant of PPM1D (Protein phosphatase 1D)
G3E (p.Gly3Glu) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G3E (p.Gly3Glu) variant details
- p.Gly3Glu
- gnomAD 17-60600422-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.07
- MetaLR 0.17
- MetaSVM -0.66
- CADD 27.00
- PolyPhen-2 0.51
- SIFT 0.41
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available