L169* (p.Leu169Ter) variant of CASK (O14936)
L169* (p.Leu169Ter) in CASK (O14936) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L169* (p.Leu169Ter) variant details
- p.Leu169Ter
- rs2147495562
- ClinGen CA412998948
- ClinVar RCV002250990
- Ensembl rs2147495562
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.366
- CADD 31.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)