Q31R (p.Gln31Arg) variant of POLR1D (P0DPB6)
Q31R (p.Gln31Arg) in POLR1D (P0DPB6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Q31R (p.Gln31Arg) variant details
- p.Gln31Arg
- gnomAD 13-27650049-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.45
- CADD 7.47
- Population evidence available
- Structural context available
- Literature evidence available