E154* (p.Glu154Ter) variant of TYK2 (P29597)
E154* (p.Glu154Ter) in TYK2 (P29597) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E154* (p.Glu154Ter) variant details
- p.Glu154Ter
- rs879253731
- ClinGen CA10575998
- ClinVar RCV000210466
- Ensembl rs879253731
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.859
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. (PMID 26304966)