E337K (p.Glu337Lys) variant of TPO (Thyroid peroxidase)
E337K (p.Glu337Lys) 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 0.50 / 1. The record also includes structural context.
E337K (p.Glu337Lys) variant details
- p.Glu337Lys
- rs1464771666
- ClinGen CA345694227
- ClinVar RCV003317777
- TOPMed rs1464771666
- Likely pathogenic
- Deficiency of iodide peroxidase
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- AlphaMissense 0.66
- MetaLR 0.32
- MetaSVM -0.48
- PolyPhen-2 0.99
- SIFT 0.16
- EVE 0.56
- ClinVar: Likely pathogenic (Deficiency of iodide peroxidase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available