T50I (p.Thr50Ile) variant of POLR1D (P0DPB6)
T50I (p.Thr50Ile) in POLR1D (P0DPB6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of POLR1D-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
T50I (p.Thr50Ile) variant details
- p.Thr50Ile
- rs2500474755
- ClinGen CA387635129
- ClinVar RCV003416960
- UniProt VAR 064893
- Uncertain significance
- POLR1D-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.94
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (POLR1D-related disorder)
- EBI: Pathogenic (in TCS2)
- UniProt: Pathogenic (in TCS2)
- Population evidence available
- Structural context available
- Cited in: Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. (PMID 21131976)