G860R (p.Gly860Arg) variant of TPO (Thyroid peroxidase)
G860R (p.Gly860Arg) in TPO (Thyroid peroxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Deficiency of iodide peroxidase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
G860R (p.Gly860Arg) variant details
- p.Gly860Arg
- rs556552435
- ClinGen CA1512194
- NCI-TCGA Cosmic COSV6110
- cosmic curated COSV61103
- Pathogenic/Likely pathogenic
- not provided; Deficiency of iodide peroxidase
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- AlphaMissense 0.85
- MetaLR 0.23
- MetaSVM -0.80
- PolyPhen-2 0.99
- SIFT 0.07
- MutPred 0.89
- ClinVar: Pathogenic/Likely pathogenic (not provided; Deficiency of iodide peroxidase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available