R659Q (p.Arg659Gln) variant of GRIN1 (Q05586)
R659Q (p.Arg659Gln) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar, EBI, 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R659Q (p.Arg659Gln) variant details
- p.Arg659Gln
- rs2131299400
- ClinGen CA375721193
- cosmic curated COSV10812
- ClinVar RCV001702142
- Pathogenic/Likely pathogenic
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.33
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.19
- ClinVar: Pathogenic/Likely pathogenic (Neurodevelopmental disorder with or without hyperkinetic movemen)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: GRIN1-Related Neurodevelopmental Disorder. (PMID 31219694)