E17* (p.Glu17Ter) variant of DLG4 (Disks large homolog 4)
E17* (p.Glu17Ter) in DLG4 (Disks large homolog 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E17* (p.Glu17Ter) variant details
- p.Glu17Ter
- cosmic curated COSV10513
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.871
- CADD 46.00
- Population evidence available
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.968