E30D (p.Glu30Asp) variant of PPM1D (Protein phosphatase 1D)
E30D (p.Glu30Asp) in PPM1D (Protein phosphatase 1D) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E30D (p.Glu30Asp) variant details
- p.Glu30Asp
- 1000Genomes rs16944543
- ESP rs16944543
- ExAC rs16944543
- TOPMed rs16944543
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.24
- CADD 22.90
- PolyPhen-2 0.88
- SIFT 0.05
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available