E28Q (p.Glu28Gln) variant of POLR1D (P0DPB6)
E28Q (p.Glu28Gln) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- rs1209845490
- gnomAD 13-27648431-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- CADD 27.50
- Population evidence available
- Structural context available
- Literature evidence available