M13T (p.Met13Thr) variant of TPO (Thyroid peroxidase)
M13T (p.Met13Thr) 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 0.34 / 1. The record also includes population frequency data and published literature.
M13T (p.Met13Thr) variant details
- p.Met13Thr
- rs756354638
- ClinGen CA1511273
- ClinVar RCV004470905
- ExAC rs756354638
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- AlphaMissense 0.13
- MetaLR 0.17
- MetaSVM -0.94
- PolyPhen-2 0.08
- SIFT 0.01
- MutPred 0.40
- 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)