T40K (p.Thr40Lys) variant of TG (Thyroglobulin)
T40K (p.Thr40Lys) 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 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
T40K (p.Thr40Lys) variant details
- p.Thr40Lys
- rs539574101
- ClinGen CA4882797
- ClinVar RCV002878755
- ExAC rs539574101
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0767
- REVEL 0.03
- MetaLR 0.06
- MetaSVM -0.97
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)