R844C (p.Arg844Cys) variant of GRIN1 (Q05586)
R844C (p.Arg844Cys) 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 0.39 / 1. The record also includes published literature and structural context.
R844C (p.Arg844Cys) variant details
- p.Arg844Cys
- rs1554770667
- Pathogenic/Likely pathogenic
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- AlphaMissense 0.98
- MetaLR 0.38
- MetaSVM -0.19
- PolyPhen-2 0.38
- SIFT 0.00
- EVE 0.17
- ClinVar: Pathogenic/Likely pathogenic (Neurodevelopmental disorder with or without hyperkinetic movemen)
- UniProt: Likely pathogenic (in NDHMSD)
- Structural context available
- Cited in: Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. (PMID 27164704)