R27* (p.Arg27Ter) variant of CASK (O14936)
R27* (p.Arg27Ter) 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.
R27* (p.Arg27Ter) variant details
- p.Arg27Ter
- rs794727270
- ClinGen CA201623
- cosmic curated COSV10882
- ClinVar RCV000175755
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- CASK PDZ domain domainome 1.0: score 0.0066
- Cited in: Phenotypic and molecular insights into CASK-related disorders in males. (PMID 25886057)
- Cited in: CASK Disorders. (PMID 24278995)