E189Q (p.Glu189Gln) variant of CASK (O14936)
E189Q (p.Glu189Gln) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Syndromic X-linked intellectual disability Najm type. The record also includes published literature and structural context.
E189Q (p.Glu189Gln) variant details
- p.Glu189Gln
- rs2519216205
- ClinGen CA412998412
- ClinVar RCV002290204
- Uncertain significance
- Syndromic X-linked intellectual disability Najm type
- Missense
- ClinVar: Uncertain significance (Syndromic X-linked intellectual disability Najm type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)