E8D (p.Glu8Asp) variant of POLR1D (P0DPB6)
E8D (p.Glu8Asp) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E8D (p.Glu8Asp) variant details
- p.Glu8Asp
- gnomAD 13-27622007-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.31
- CADD 26.20
- PolyPhen-2 0.94
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available