Q31* (p.Gln31Ter) variant of POLR1D (P0DPB6)
Q31* (p.Gln31Ter) in POLR1D (P0DPB6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Q31* (p.Gln31Ter) variant details
- p.Gln31Ter
- gnomAD 13-27650049-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.481
- CADD 11.70
- Population evidence available
- Structural context available
- Literature evidence available