S688Y (p.Ser688Tyr) variant of GRIN1 (Q05586)
S688Y (p.Ser688Tyr) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Neurodevelopmental disorder with or without hyperkinetic movements and seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S688Y (p.Ser688Tyr) variant details
- p.Ser688Tyr
- rs1833635820
- Pathogenic/Likely pathogenic
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.47
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Neurodevelopmental disorder with or without hyperkinetic movemen)
- UniProt: Likely pathogenic (in NDHMSD)
- Population evidence available
- Structural context available
- Cited in: De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. (PMID 28389307)