G590S (p.Gly590Ser) variant of TPO (Thyroid peroxidase)
G590S (p.Gly590Ser) in TPO (Thyroid peroxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Deficiency of iodide peroxidase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature.
G590S (p.Gly590Ser) variant details
- p.Gly590Ser
- rs121908084
- ClinGen CA116631
- ClinVar RCV000004260
- UniProt VAR 027231
- Pathogenic
- Deficiency of iodide peroxidase
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- AlphaMissense 0.55
- MetaLR 0.63
- MetaSVM 0.47
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.65
- ClinVar: Pathogenic (Deficiency of iodide peroxidase)
- EBI: Pathogenic (in TDH2A)
- UniProt: Pathogenic (in TDH2A)
- Cited in: Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel… (PMID 7550241)
- Cited in: Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of… (PMID 10084596)