E6K (p.Glu6Lys) variant of POLR1D (P0DPB6)
E6K (p.Glu6Lys) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- TOPMed rs1450614909
- gnomAD rs1450614909
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.42
- CADD 26.20
- PolyPhen-2 0.33
- SIFT 0.01
- Population evidence available
- Structural context available