T35R (p.Thr35Arg) variant of POLR1D (P0DPB6)
T35R (p.Thr35Arg) in POLR1D (P0DPB6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
T35R (p.Thr35Arg) variant details
- p.Thr35Arg
- TOPMed rs1053573832
- gnomAD rs1053573832
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.36
- CADD 22.60
- PolyPhen-2 0.22
- SIFT 0.28
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available