R320C (p.Arg320Cys) variant of THRB (Thyroid hormone receptor beta)
R320C (p.Arg320Cys) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Thyroid hormone resistance, generalized, autosomal recessive; Sele. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R320C (p.Arg320Cys) variant details
- p.Arg320Cys
- rs121918696
- ClinGen CA122493
- cosmic curated COSV54983
- ClinVar RCV000013384
- Pathogenic
- not provided; Thyroid hormone resistance, generalized, autosomal recessive; Sele
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- AlphaMissense 0.94
- MetaLR 0.93
- MetaSVM 1.07
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Thyroid hormone resistance, generalized, autosomal)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Population evidence available
- Structural context available
- Cited in: Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich… (PMID 8514853)
- Cited in: T426I a new mutation in the thyroid hormone receptor beta gene in a sporadic patient with resistance to thyroid hormone… (PMID 10660344)