E135* (p.Glu135Ter) variant of STAT2 (P52630)
E135* (p.Glu135Ter) in STAT2 (P52630) 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 0.63 / 1. The record also includes population frequency data and structural context.
E135* (p.Glu135Ter) variant details
- p.Glu135Ter
- rs753806117
- ClinGen CA385263398
- ClinVar RCV002616437
- ExAC rs753806117
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.63
- CADD 25.80
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available