E39G (p.Glu39Gly) variant of TG (Thyroglobulin)
E39G (p.Glu39Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E39G (p.Glu39Gly) variant details
- p.Glu39Gly
- rs776679893
- ClinGen CA4882794
- ClinVar RCV002661020
- ExAC rs776679893
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.42
- MetaLR 0.34
- MetaSVM -0.53
- CADD 24.00
- PolyPhen-2 0.67
- SIFT 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)