R152K (p.Arg152Lys) variant of TPO (Thyroid peroxidase)
R152K (p.Arg152Lys) in TPO (Thyroid peroxidase) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Deficiency of iodide peroxidase.
R152K (p.Arg152Lys) variant details
- p.Arg152Lys
- NCI-TCGA Cosmic COSV6111
- cosmic curated COSV61112
- Likely pathogenic
- Deficiency of iodide peroxidase
- Missense
- ClinVar: Likely pathogenic (Deficiency of iodide peroxidase)
- UniProt: Likely pathogenic