T9I (p.Thr9Ile) variant of TG (Thyroglobulin)
T9I (p.Thr9Ile) 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 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
T9I (p.Thr9Ile) variant details
- p.Thr9Ile
- rs1332458708
- ClinGen CA372244091
- ClinVar RCV004474446
- gnomAD rs1332458708
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.1
- REVEL 0.07
- MetaLR 0.15
- MetaSVM -0.93
- CADD 0.40
- PolyPhen-2 0.00
- SIFT 0.40
- 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)