E39K (p.Glu39Lys) variant of TG (Thyroglobulin)
E39K (p.Glu39Lys) in TG (Thyroglobulin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E39K (p.Glu39Lys) variant details
- p.Glu39Lys
- ExAC rs771157696
- TOPMed rs771157696
- gnomAD rs771157696
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.34
- MetaLR 0.34
- MetaSVM -0.44
- CADD 26.80
- PolyPhen-2 0.73
- SIFT 0.10
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available