D5N (p.Asp5Asn) variant of CASK (O14936)
D5N (p.Asp5Asn) in CASK (O14936) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Intellectual disability, CASK-related, X-linked. The record also includes experimental measurements and structural context.
D5N (p.Asp5Asn) variant details
- p.Asp5Asn
- cosmic curated COSV59374
- Uncertain significance
- Intellectual disability, CASK-related, X-linked
- Missense
- ClinVar: Uncertain significance (Intellectual disability, CASK-related, X-linked)
- UniProt: Uncertain significance
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.024