E6Q (p.Glu6Gln) variant of POLR1D (P0DPB6)
E6Q (p.Glu6Gln) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E6Q (p.Glu6Gln) variant details
- p.Glu6Gln
- TOPMed rs1450614909
- gnomAD rs1450614909
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.28
- CADD 27.90
- PolyPhen-2 0.53
- SIFT 0.01
- Population evidence available
- Structural context available