G493S (p.Gly493Ser) variant of TPO (Thyroid peroxidase)
G493S (p.Gly493Ser) in TPO (Thyroid peroxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neurodevelopmental disorder; not provided; Deficiency of iodide peroxidase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G493S (p.Gly493Ser) variant details
- p.Gly493Ser
- rs778515113
- ClinGen CA1511737
- NCI-TCGA Cosmic COSV6109
- cosmic curated COSV61094
- Pathogenic
- Neurodevelopmental disorder; not provided; Deficiency of iodide peroxidase
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- AlphaMissense 0.67
- MetaLR 0.77
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic (Neurodevelopmental disorder; not provided; Deficiency of iodide)
- EBI: Pathogenic (in TDH2A)
- UniProt: Pathogenic (in TDH2A)
- Population evidence available
- Structural context available
- Cited in: Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect… (PMID 11874711)
- Cited in: Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine… (PMID 29398453)