S522C (p.Ser522Cys) variant of GRIA2 (Glutamate receptor 2)
S522C (p.Ser522Cys) in GRIA2 (Glutamate receptor 2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Neurodevelopmental disorder with language impairment and behavioral abnormalitie. The record also includes structural context.
S522C (p.Ser522Cys) variant details
- p.Ser522Cys
- NCI-TCGA Cosmic COSV5238
- cosmic curated COSV52388
- Likely pathogenic
- Neurodevelopmental disorder with language impairment and behavioral abnormalitie
- Missense
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with language impairment and behavio)
- UniProt: Likely pathogenic
- Structural context available