R23* (p.Arg23Ter) variant of THRB (Thyroid hormone receptor beta)
R23* (p.Arg23Ter) in THRB (Thyroid hormone receptor beta) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R23* (p.Arg23Ter) variant details
- p.Arg23Ter
- rs886043743
- ClinGen CA10605889
- ClinVar RCV000269235
- TOPMed rs886043743
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.414
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available