Q660E (p.Gln660Glu) variant of TPO (Thyroid peroxidase)
Q660E (p.Gln660Glu) in TPO (Thyroid peroxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Congenital hypothyroidism; not provided; Deficiency of iodide peroxidase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and published literature.
Q660E (p.Gln660Glu) variant details
- p.Gln660Glu
- rs121908088
- ClinGen CA116635
- ClinVar RCV000004268
- ClinVar RCV000440090
- Pathogenic/Likely pathogenic
- Congenital hypothyroidism; not provided; Deficiency of iodide peroxidase
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- AlphaMissense 0.38
- MetaLR 0.70
- MetaSVM 0.74
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic/Likely pathogenic (Congenital hypothyroidism; not provided; Deficiency of iodide pe)
- EBI: Pathogenic (in TDH2A)
- UniProt: Pathogenic (in TDH2A)
- Population evidence available
- Cited in: A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect. (PMID 10468986)
- Cited in: Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico… (PMID 18029453)