R28* (p.Arg28Ter) variant of CASK (O14936)
R28* (p.Arg28Ter) in CASK (O14936) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FGS4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R28* (p.Arg28Ter) variant details
- p.Arg28Ter
- rs587783370
- ClinGen CA171494
- ClinVar RCV000145415
- ClinVar RCV000430705
- Pathogenic
- in FGS4
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.774
- CADD 35.00
- EBI: Pathogenic (in FGS4)
- UniProt: Pathogenic (in FGS4)
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.779
- Cited in: CASK Disorders. (PMID 24278995)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)