Q5E (p.Gln5Glu) variant of POLR1D (P0DPB6)
Q5E (p.Gln5Glu) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Q5E (p.Gln5Glu) variant details
- p.Gln5Glu
- gnomAD 13-27621996-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.23
- CADD 22.60
- PolyPhen-2 0.54
- SIFT 0.66
- Population evidence available
- Structural context available
- Literature evidence available