Q32* (p.Gln32Ter) variant of DLG4 (Disks large homolog 4)
Q32* (p.Gln32Ter) in DLG4 (Disks large homolog 4) 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, experimental measurements, published literature, and structural context.
Q32* (p.Gln32Ter) variant details
- p.Gln32Ter
- rs2508083151
- ClinGen CA397720927
- ClinVar RCV003219143
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.862
- CADD 44.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.0557
- Cited in: DLG4-Related Synaptopathy. (PMID 37347881)