G34D (p.Gly34Asp) variant of POLR1D (P0DPB6)
G34D (p.Gly34Asp) in POLR1D (P0DPB6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G34D (p.Gly34Asp) variant details
- p.Gly34Asp
- gnomAD 13-27648438-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available