Y453D (p.Tyr453Asp) variant of TPO (Thyroid peroxidase)
Y453D (p.Tyr453Asp) in TPO (Thyroid peroxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Y453D (p.Tyr453Asp) variant details
- p.Tyr453Asp
- rs121908083
- ClinGen CA116630
- ClinVar RCV000004259
- ClinVar RCV000493931
- Pathogenic
- Congenital hypothyroidism; not provided; Deficiency of iodide peroxidase
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- AlphaMissense 0.91
- MetaLR 0.63
- MetaSVM 0.45
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (Congenital hypothyroidism; not provided; Deficiency of iodide pe)
- 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: Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes. (PMID 16684826)