Q5* (p.Gln5Ter) variant of POLR1D (P0DPB6)
Q5* (p.Gln5Ter) in POLR1D (P0DPB6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
Q5* (p.Gln5Ter) variant details
- p.Gln5Ter
- TOPMed rs1347269621
- gnomAD rs1347269621
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.867
- CADD 44.00
- Population evidence available
- Structural context available