C1728R (p.Cys1728Arg) variant of TG (Thyroglobulin)
C1728R (p.Cys1728Arg) in TG (Thyroglobulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autoimmune thyroid disease, susceptibility to, 3; Iodotyrosyl coupling defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
C1728R (p.Cys1728Arg) variant details
- p.Cys1728Arg
- rs376200169
- ClinGen CA4884386
- ClinVar RCV001270326
- ClinVar RCV005040114
- Likely pathogenic
- Autoimmune thyroid disease, susceptibility to, 3; Iodotyrosyl coupling defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.78
- MetaLR 0.57
- MetaSVM 0.22
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autoimmune thyroid disease, susceptibility to, 3; Iodotyrosyl co)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: acmg act sheets and algorithms (PMID 21938795)