G181R (p.Gly181Arg) variant of CASK (O14936)
G181R (p.Gly181Arg) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability, CASK-related, X-linked. The record also includes published literature and structural context.
G181R (p.Gly181Arg) variant details
- p.Gly181Arg
- rs2519216366
- ClinGen CA412998518
- ClinVar RCV003625698
- Uncertain significance
- Intellectual disability, CASK-related, X-linked
- Missense
- ClinVar: Uncertain significance (Intellectual disability, CASK-related, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)