S505R (p.Ser505Arg) variant of TSHR (Thyrotropin receptor)
S505R (p.Ser505Arg) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial gestational hyperthyroidism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
S505R (p.Ser505Arg) variant details
- p.Ser505Arg
- rs774078708
- ClinGen CA390728063
- cosmic curated COSV53329
- ClinVar RCV003153136
- Pathogenic
- Familial gestational hyperthyroidism
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.86
- SIFT 0.00
- MutPred 0.80
- ClinVar: Pathogenic (Familial gestational hyperthyroidism)
- EBI: Pathogenic (in HTNA)
- UniProt: Pathogenic (in HTNA)
- Structural context available
- Cited in: Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant… (PMID 8636266)
- Cited in: A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a… (PMID 10199795)