G2375R (p.Gly2375Arg) variant of TG (Thyroglobulin)
G2375R (p.Gly2375Arg) in TG (Thyroglobulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of TG-related disorder; Iodotyrosyl coupling defect; Autoimmune thyroid disease, su. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G2375R (p.Gly2375Arg) variant details
- p.Gly2375Arg
- rs137854434
- ClinGen CA210709
- cosmic curated COSV55094
- NCI-TCGA Cosmic COSV9960
- Pathogenic/Likely pathogenic
- TG-related disorder; Iodotyrosyl coupling defect; Autoimmune thyroid disease, su
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.95
- MetaLR 0.72
- MetaSVM 0.77
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (TG-related disorder; Iodotyrosyl coupling defect; Autoimmune thy)
- EBI: Pathogenic (in TDH3)
- UniProt: Pathogenic (in TDH3)
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- Cited in: High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations. (PMID 16187918)
- Cited in: Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased… (PMID 17244789)