R2242H (p.Arg2242His) variant of TG (Thyroglobulin)
R2242H (p.Arg2242His) in TG (Thyroglobulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Iodotyrosyl coupling defect; Autoimmune thyroid disease, susceptib. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R2242H (p.Arg2242His) variant details
- p.Arg2242His
- rs2069566
- ClinGen CA210705
- ClinVar RCV000013537
- ClinVar RCV001329060
- Pathogenic
- not provided; Iodotyrosyl coupling defect; Autoimmune thyroid disease, susceptib
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.84
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Iodotyrosyl coupling defect; Autoimmune thyroid di)
- EBI: Pathogenic (in dbSNP:rs2069566)
- UniProt: Pathogenic (in dbSNP:rs2069566)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of… (PMID 10199792)
- Cited in: Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous… (PMID 12915634)