R665Q (p.Arg665Gln) variant of TPO (Thyroid peroxidase)
R665Q (p.Arg665Gln) in TPO (Thyroid peroxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Deficiency of iodide peroxidase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R665Q (p.Arg665Gln) variant details
- p.Arg665Gln
- rs140124953
- ClinGen CA1511904
- ClinVar RCV000414861
- ClinVar RCV003558369
- Likely pathogenic
- not provided; Deficiency of iodide peroxidase
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- AlphaMissense 0.28
- MetaLR 0.57
- MetaSVM 0.28
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.48
- ClinVar: Likely pathogenic (not provided; Deficiency of iodide peroxidase)
- EBI: Pathogenic (in TDH2A)
- UniProt: Pathogenic (in TDH2A)
- Population evidence available
- Structural context available