E2G (p.Glu2Gly) variant of POLR1D (P0DPB6)
E2G (p.Glu2Gly) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- Ensembl rs1955936711
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.44
- CADD 28.60
- PolyPhen-2 0.24
- SIFT 0.01
- Population evidence available
- Structural context available