E799K (p.Glu799Lys) variant of TPO (Thyroid peroxidase)
E799K (p.Glu799Lys) in TPO (Thyroid peroxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Deficiency of iodide peroxidase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
E799K (p.Glu799Lys) variant details
- p.Glu799Lys
- rs121908085
- ClinGen CA116632
- NCI-TCGA Cosmic COSV6111
- cosmic curated COSV61110
- Pathogenic/Likely pathogenic
- not provided; Deficiency of iodide peroxidase
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- AlphaMissense 0.40
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Deficiency of iodide peroxidase)
- EBI: Pathogenic (in TDH2A)
- UniProt: Pathogenic (in TDH2A)
- Population evidence available
- Structural context available
- Cited in: Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of… (PMID 10084596)
- Cited in: Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide… (PMID 11061528)