R23Q (p.Arg23Gln) variant of THRB (Thyroid hormone receptor beta)
R23Q (p.Arg23Gln) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified; Thyroid hormone resistance, generalized, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R23Q (p.Arg23Gln) variant details
- p.Arg23Gln
- rs200124942
- ClinGen CA2287448
- ClinVar RCV001145164
- ClinVar RCV005437002
- Likely benign
- not specified; Thyroid hormone resistance, generalized, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Likely benign (not specified; Thyroid hormone resistance, generalized, autosoma)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available