W203* (p.Trp203Ter) variant of CASK (O14936)
W203* (p.Trp203Ter) in CASK (O14936) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
W203* (p.Trp203Ter) variant details
- p.Trp203Ter
- rs886039474
- ClinGen CA10588785
- cosmic curated COSV59362
- ClinVar RCV000255294
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available