Y12* (p.Tyr12Ter) variant of CASK (O14936)
Y12* (p.Tyr12Ter) in CASK (O14936) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes experimental measurements and structural context.
Y12* (p.Tyr12Ter) variant details
- p.Tyr12Ter
- rs1021128001
- ClinGen CA413001880
- ClinVar RCV000999407
- NCI-TCGA TCGA novel
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.237