E2D (p.Glu2Asp) variant of POLR1D (P0DPB6)
E2D (p.Glu2Asp) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- 1000Genomes rs376051642
- ExAC rs376051642
- TOPMed rs376051642
- gnomAD rs376051642
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.32
- CADD 21.20
- PolyPhen-2 0.17
- SIFT 0.08
- Population evidence available
- Structural context available