Q5R (p.Gln5Arg) variant of POLR1D (P0DPB6)
Q5R (p.Gln5Arg) in POLR1D (P0DPB6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q5R (p.Gln5Arg) variant details
- p.Gln5Arg
- gnomAD 13-27621995-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.369
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available