C1996S (p.Cys1996Ser) variant of TG (Thyroglobulin)
C1996S (p.Cys1996Ser) in TG (Thyroglobulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Iodotyrosyl coupling defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
C1996S (p.Cys1996Ser) variant details
- p.Cys1996Ser
- rs2076739
- ClinGen CA210702
- ClinVar RCV000013531
- UniProt VAR 010219
- Pathogenic
- Iodotyrosyl coupling defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.82
- MetaLR 0.32
- MetaSVM -0.23
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Iodotyrosyl coupling defect)
- EBI: Pathogenic (in TDH3)
- UniProt: Pathogenic (in TDH3)
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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: Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan. (PMID 16720658)