R665W (p.Arg665Trp) variant of TPO (Thyroid peroxidase)
R665W (p.Arg665Trp) in TPO (Thyroid peroxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Deficiency of iodide peroxidase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R665W (p.Arg665Trp) variant details
- p.Arg665Trp
- rs776742629
- ClinGen CA1511903
- ClinVar RCV003554917
- ClinVar RCV004701726
- Pathogenic
- not provided; Deficiency of iodide peroxidase
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- AlphaMissense 0.59
- MetaLR 0.64
- MetaSVM 0.43
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (not provided; Deficiency of iodide peroxidase)
- EBI: Pathogenic (in TDH2A)
- UniProt: Pathogenic (in TDH2A)
- Population evidence available
- Structural context available
- Cited in: Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause… (PMID 11916616)
- Cited in: Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of… (PMID 10084596)