E8E (p.Glu8Glu) variant of POLR1D (P0DPB6)
E8E (p.Glu8Glu) in POLR1D (P0DPB6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E8E (p.Glu8Glu) variant details
- p.Glu8Glu
- rs1190644767
- gnomAD 13-27622007-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 17.00
- Population evidence available
- Structural context available
- Literature evidence available