D619G (p.Asp619Gly) variant of TSHR (Thyrotropin receptor)
D619G (p.Asp619Gly) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thyroid adenoma, hyperfunctioning, somatic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
D619G (p.Asp619Gly) variant details
- p.Asp619Gly
- rs121908859
- ClinGen CA118194
- cosmic curated COSV53314
- ClinVar RCV000006800
- Pathogenic
- Thyroid adenoma, hyperfunctioning, somatic
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- AlphaMissense 0.86
- MetaLR 0.68
- MetaSVM 0.67
- SIFT 0.00
- MutPred 0.55
- ClinVar: Pathogenic (Thyroid adenoma, hyperfunctioning, somatic)
- EBI: Pathogenic (in hyperthyroidism)
- UniProt: Pathogenic (in hyperthyroidism)
- Structural context available
- Cited in: Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. (PMID 8413627)
- Cited in: Detection of thyroid-stimulating hormone receptor and Gsalpha mutations: in 75 toxic thyroid nodules by denaturing… (PMID 11434721)