E22K (p.Glu22Lys) variant of POLR1D (P0DPB6)
E22K (p.Glu22Lys) in POLR1D (P0DPB6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. 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.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- ExAC rs765011144
- TOPMed rs765011144
- gnomAD rs765011144
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.41
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available