G827R (p.Gly827Arg) variant of GRIN1 (Q05586)
G827R (p.Gly827Arg) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Neurodevelopmental disorder with or without hyperkinetic movements. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
G827R (p.Gly827Arg) variant details
- p.Gly827Arg
- rs1451230055
- Pathogenic/Likely pathogenic
- not provided; Neurodevelopmental disorder with or without hyperkinetic movements
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- AlphaMissense 1.00
- MetaLR 0.54
- MetaSVM 0.17
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic/Likely pathogenic (not provided; Neurodevelopmental disorder with or without hyperk)
- UniProt: Likely pathogenic (in NDHMSD)
- Structural context available
- Cited in: Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. (PMID 27164704)
- Cited in: De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. (PMID 28389307)