E2E (p.Glu2Glu) variant of POLR1D (P0DPB6)
E2E (p.Glu2Glu) in POLR1D (P0DPB6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E2E (p.Glu2Glu) variant details
- p.Glu2Glu
- rs376051642
- gnomAD 13-27621989-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 13.80
- Population evidence available
- Structural context available
- Literature evidence available