R46H (p.Arg46His) variant of THRB (Thyroid hormone receptor beta)
R46H (p.Arg46His) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Thyroid hormone resistance, generalized, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R46H (p.Arg46His) variant details
- p.Arg46His
- rs556429294
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10072
- 1000Genomes rs556429294
- Likely benign
- Thyroid hormone resistance, generalized, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Likely benign (Thyroid hormone resistance, generalized, autosomal recessive)
- UniProt: Likely benign
- Population evidence available
- Structural context available