D552E (p.Asp552Glu) variant of GRIN1 (Q05586)
D552E (p.Asp552Glu) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar and UniProt describe it as 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
D552E (p.Asp552Glu) variant details
- p.Asp552Glu
- rs1554770054
- Pathogenic
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.21
- CADD 21.80
- PolyPhen-2 0.90
- SIFT 1.00
- ClinVar: Pathogenic (Neurodevelopmental disorder with or without hyperkinetic movemen)
- UniProt: Pathogenic (in NDHMSD)
- Population evidence available
- Structural context available
- Cited in: GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. (PMID 25864721)
- Cited in: Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. (PMID 27164704)