T35I (p.Thr35Ile) variant of POLR1D (P0DPB6)
T35I (p.Thr35Ile) in POLR1D (P0DPB6) is a missense change. Clinical records from ClinVar, EBI, 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 0.54 / 1. The record also includes population frequency data and structural context.
T35I (p.Thr35Ile) variant details
- p.Thr35Ile
- rs1053573832
- ClinGen CA387634957
- ClinVar RCV003577479
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.39
- CADD 22.80
- PolyPhen-2 0.22
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available