Q37* (p.Gln37Ter) variant of CASK (O14936)
Q37* (p.Gln37Ter) in CASK (O14936) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements, published literature, and structural context.
Q37* (p.Gln37Ter) variant details
- p.Gln37Ter
- rs1556254569
- ClinGen CA413000876
- cosmic curated COSV59374
- ClinVar RCV000620583
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.38
- Cited in: CASK Disorders. (PMID 24278995)