G387R (p.Gly387Arg) variant of TPO (Thyroid peroxidase)
G387R (p.Gly387Arg) 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 0.32 / 1. The record also includes population frequency data.
G387R (p.Gly387Arg) variant details
- p.Gly387Arg
- rs753012199
- ClinGen CA1511670
- ClinVar RCV002250953
- ExAC rs753012199
- Likely pathogenic
- Deficiency of iodide peroxidase
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- AlphaMissense 0.23
- MetaLR 0.13
- MetaSVM -0.94
- PolyPhen-2 0.95
- SIFT 0.08
- EVE 0.11
- ClinVar: Likely pathogenic (Deficiency of iodide peroxidase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available