E30E (p.Glu30Glu) variant of PPM1D (Protein phosphatase 1D)
E30E (p.Glu30Glu) in PPM1D (Protein phosphatase 1D) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E30E (p.Glu30Glu) variant details
- p.Glu30Glu
- rs16944543
- gnomAD 17-60600504-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.297
- CADD 11.90
- Most common in the HGDP:MANDENKA population (allele frequency 0.33)
- Structural context available
- Literature evidence available