H120R (p.His120Arg) variant of CASK (O14936)
H120R (p.His120Arg) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Syndromic X-linked intellectual disability Najm type. The record also includes published literature and structural context.
H120R (p.His120Arg) variant details
- p.His120Arg
- rs1602550687
- ClinGen CA413002944
- ClinVar RCV001004663
- Likely pathogenic
- Syndromic X-linked intellectual disability Najm type
- Missense
- ClinVar: Likely pathogenic (Syndromic X-linked intellectual disability Najm type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)