T16K (p.Thr16Lys) variant of TPO (Thyroid peroxidase)
T16K (p.Thr16Lys) in TPO (Thyroid peroxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and published literature.
T16K (p.Thr16Lys) variant details
- p.Thr16Lys
- rs1259378236
- ClinGen CA345727933
- ClinVar RCV003241994
- TOPMed rs1259378236
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- AlphaMissense 0.31
- MetaLR 0.32
- MetaSVM -0.91
- PolyPhen-2 0.95
- SIFT 0.00
- MutPred 0.50
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)