R106* (p.Arg106Ter) variant of CASK (O14936)
R106* (p.Arg106Ter) in CASK (O14936) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R106* (p.Arg106Ter) variant details
- p.Arg106Ter
- rs387906704
- ClinGen CA250707
- NCI-TCGA Cosmic COSV5937
- cosmic curated COSV59376
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Phenotypic spectrum associated with CASK loss-of-function mutations. (PMID 21954287)
- Cited in: CASK Disorders. (PMID 24278995)