I447F (p.Ile447Phe) variant of TPO (Thyroid peroxidase)
I447F (p.Ile447Phe) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
I447F (p.Ile447Phe) variant details
- p.Ile447Phe
- rs104893669
- ClinGen CA116629
- ClinVar RCV000004258
- UniProt VAR 015375
- Pathogenic
- Deficiency of iodide peroxidase
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- AlphaMissense 0.39
- MetaLR 0.43
- MetaSVM -0.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.43
- ClinVar: Pathogenic (Deficiency of iodide peroxidase)
- EBI: Pathogenic (in TDH2A)
- UniProt: Pathogenic (in TDH2A)
- Population evidence available
- Structural context available
- Cited in: Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide… (PMID 11061528)
- Cited in: Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects. (PMID 9024270)