R243G (p.Arg243Gly) variant of THRB (Thyroid hormone receptor beta)
R243G (p.Arg243Gly) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thyroid hormone resistance, generalized, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
R243G (p.Arg243Gly) variant details
- p.Arg243Gly
- rs121918707
- ClinGen CA351891327
- ClinVar RCV000582665
- 1000Genomes rs121918707
- Uncertain significance
- Thyroid hormone resistance, generalized, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 0.95
- MetaLR 0.91
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.17
- MutPred 0.61
- ClinVar: Uncertain significance (Thyroid hormone resistance, generalized, autosomal dominant)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Structural context available