A317T (p.Ala317Thr) variant of THRB (Thyroid hormone receptor beta)
A317T (p.Ala317Thr) 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 syndrome; Hyperthyroidism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
A317T (p.Ala317Thr) variant details
- p.Ala317Thr
- rs121918690
- ClinGen CA122467
- NCI-TCGA Cosmic COSV5498
- cosmic curated COSV54982
- Pathogenic
- not provided; Thyroid hormone resistance syndrome; Hyperthyroidism
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- AlphaMissense 0.79
- MetaLR 0.86
- MetaSVM 0.87
- PolyPhen-2 0.97
- SIFT 0.01
- EVE 0.19
- ClinVar: Pathogenic (not provided; Thyroid hormone resistance syndrome; Hyperthyroidi)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Structural context available
- Cited in: Two resistance to thyroid hormone mutants with impaired hormone binding. (PMID 12554782)
- Cited in: Correlations of language abnormalities with localization of mutations in the beta-thyroid hormone receptor in 13… (PMID 1400869)