E28K (p.Glu28Lys) variant of POLR1D (P0DPB6)
E28K (p.Glu28Lys) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- rs1209845490
- gnomAD 13-27648431-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- CADD 26.60
- Population evidence available
- Structural context available
- Literature evidence available