R2336Q (p.Arg2336Gln) variant of TG (Thyroglobulin)
R2336Q (p.Arg2336Gln) in TG (Thyroglobulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Iodotyrosyl coupling defect; Autoimmune thyroid disease, susceptibility to, 3; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R2336Q (p.Arg2336Gln) variant details
- p.Arg2336Gln
- rs121912650
- ClinGen CA210711
- NCI-TCGA Cosmic COSV5506
- cosmic curated COSV55069
- Likely pathogenic
- Iodotyrosyl coupling defect; Autoimmune thyroid disease, susceptibility to, 3; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.92
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Iodotyrosyl coupling defect; Autoimmune thyroid disease, suscept)
- EBI: Pathogenic (in TDH3)
- UniProt: Pathogenic (in TDH3)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with… (PMID 16477365)
- Cited in: Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of… (PMID 10199792)