E54Q (p.Glu54Gln) variant of TG (Thyroglobulin)
E54Q (p.Glu54Gln) in TG (Thyroglobulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Iodotyrosyl coupling defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E54Q (p.Glu54Gln) variant details
- p.Glu54Gln
- rs1303871583
- ClinGen CA372244926
- ClinVar RCV001161228
- ClinVar RCV005503019
- Uncertain significance
- Inborn genetic diseases; Iodotyrosyl coupling defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.40
- MetaLR 0.40
- MetaSVM -0.50
- CADD 24.70
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; Iodotyrosyl coupling defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context 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)