H520Y (p.His520Tyr) variant of TPO (Thyroid peroxidase)
H520Y (p.His520Tyr) in TPO (Thyroid peroxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deficiency of iodide peroxidase; Delayed gross motor development; Protruding ton. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature.
H520Y (p.His520Tyr) variant details
- p.His520Tyr
- rs1057518950
- ClinGen CA16043375
- cosmic curated COSV61110
- ClinVar RCV000415396
- Likely pathogenic
- Deficiency of iodide peroxidase; Delayed gross motor development; Protruding ton
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- AlphaMissense 0.25
- MetaLR 0.42
- MetaSVM -0.36
- PolyPhen-2 0.99
- SIFT 0.19
- EVE 0.28
- ClinVar: Likely pathogenic (Deficiency of iodide peroxidase; Delayed gross motor development)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: acmg act sheets and algorithms (PMID 21938795)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)