G815R (p.Gly815Arg) variant of GRIN1 (Q05586)
G815R (p.Gly815Arg) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Inborn genetic diseases; GRIN1-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G815R (p.Gly815Arg) variant details
- p.Gly815Arg
- rs797044925
- Pathogenic
- Inborn genetic diseases; GRIN1-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.77
- CADD 35.00
- PolyPhen-2 0.98
- SIFT 0.00
- 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)