R412H (p.Arg412His) variant of TPO (Thyroid peroxidase)
R412H (p.Arg412His) 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. 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.
R412H (p.Arg412His) variant details
- p.Arg412His
- rs1173922703
- UniProt VAR 078336
- TOPMed rs1173922703
- gnomAD rs1173922703
- Likely pathogenic
- Deficiency of iodide peroxidase
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- AlphaMissense 0.71
- MetaLR 0.71
- MetaSVM 0.77
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.94
- ClinVar: Likely pathogenic (Deficiency of iodide peroxidase)
- EBI: Variant of uncertain significance (in TDH2A)
- UniProt: Uncertain significance (in TDH2A)
- Population evidence available
- Structural context available
- Cited in: Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive… (PMID 27305979)
- Cited in: Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of… (PMID 10084596)