R659W (p.Arg659Trp) variant of GRIN1 (Q05586)
R659W (p.Arg659Trp) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R659W (p.Arg659Trp) variant details
- p.Arg659Trp
- rs1064797355
- ClinGen CA16621877
- ClinVar RCV000488193
- ClinVar RCV002526005
- Pathogenic
- not provided; Neurodevelopmental disorder with or without hyperkinetic movements
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.59
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Neurodevelopmental disorder with or without hyperk)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: GRIN1-Related Neurodevelopmental Disorder. (PMID 31219694)