G771R (p.Gly771Arg) variant of TPO (Thyroid peroxidase)
G771R (p.Gly771Arg) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G771R (p.Gly771Arg) variant details
- p.Gly771Arg
- rs138931129
- ClinGen CA1512038
- cosmic curated COSV61104
- ClinVar RCV003399452
- Likely pathogenic
- Deficiency of iodide peroxidase
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- AlphaMissense 0.48
- MetaLR 0.80
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: Likely pathogenic (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)