E6D (p.Glu6Asp) variant of POLR1D (P0DPB6)
E6D (p.Glu6Asp) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E6D (p.Glu6Asp) variant details
- p.Glu6Asp
- gnomAD 13-27622001-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.23
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available