E20D (p.Glu20Asp) variant of PML (Protein PML)
E20D (p.Glu20Asp) in PML (Protein PML) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E20D (p.Glu20Asp) variant details
- p.Glu20Asp
- TOPMed rs1273074911
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.02
- CADD 7.32
- PolyPhen-2 0.01
- SIFT 0.10
- Population evidence available
- Structural context available