C825R (p.Cys825Arg) variant of TPO (Thyroid peroxidase)
C825R (p.Cys825Arg) 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 0.98 / 1. The record also includes structural context.
C825R (p.Cys825Arg) variant details
- p.Cys825Arg
- rs2125001180
- ClinGen CA345693533
- ClinVar RCV002251166
- Ensembl rs2125001180
- Likely pathogenic
- Deficiency of iodide peroxidase
- Missense
- Variant Prioritization Score for Impact Estimate 0.982
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 1.12
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.92
- ClinVar: Likely pathogenic (Deficiency of iodide peroxidase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available