E23K (p.Glu23Lys) variant of TG (Thyroglobulin)
E23K (p.Glu23Lys) in TG (Thyroglobulin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Iodotyrosyl coupling defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E23K (p.Glu23Lys) variant details
- p.Glu23Lys
- TOPMed rs1024568791
- gnomAD rs1024568791
- Uncertain significance
- Iodotyrosyl coupling defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.34
- MetaLR 0.32
- MetaSVM -0.31
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.08
- ClinVar: Uncertain significance (Iodotyrosyl coupling defect)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available