R320H (p.Arg320His) variant of THRB (Thyroid hormone receptor beta)
R320H (p.Arg320His) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Hyperthyroidism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R320H (p.Arg320His) variant details
- p.Arg320His
- rs121918693
- ClinGen CA122487
- ClinVar RCV000013380
- ClinVar RCV000622278
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Hyperthyroidism
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- AlphaMissense 0.95
- MetaLR 0.94
- MetaSVM 1.08
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Hyperthyroidism)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Population evidence available
- Structural context available
- Cited in: An arginine to histidine mutation in codon 315 of the c-erbA beta thyroid hormone receptor in a kindred with… (PMID 1314846)
- Cited in: Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich… (PMID 8514853)