L59= variant of CASK (O14936)
L59= in CASK (O14936) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes experimental measurements and structural context.
L59= variant details
- rs1349847248
- NCI-TCGA Cosmic COSV5936
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.101