P639S (p.Pro639Ser) variant of TSHR (Thyrotropin receptor)
P639S (p.Pro639Ser) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hyperthyroidism due to mutations in TSH receptor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
P639S (p.Pro639Ser) variant details
- p.Pro639Ser
- rs121908880
- ClinGen CA118260
- cosmic curated COSV53319
- ClinVar RCV000006825
- Pathogenic
- Familial hyperthyroidism due to mutations in TSH receptor
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- AlphaMissense 0.97
- MetaLR 0.81
- MetaSVM 0.92
- SIFT 0.00
- MutPred 0.79
- ClinVar: Pathogenic (Familial hyperthyroidism due to mutations in TSH receptor)
- EBI: Pathogenic (in HTNA)
- UniProt: Pathogenic (in HTNA)
- Structural context available
- Cited in: A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a… (PMID 10199795)
- Cited in: Activating thyrotropin receptor mutations are present in nonadenomatous hyperfunctioning nodules of toxic or autonomous… (PMID 10852462)