E8* (p.Glu8Ter) variant of POLR1D (P0DPB6)
E8* (p.Glu8Ter) in POLR1D (P0DPB6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E8* (p.Glu8Ter) variant details
- p.Glu8Ter
- gnomAD 13-27622005-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.759
- CADD 49.00
- Population evidence available
- Structural context available
- Literature evidence available