R844L (p.Arg844Leu) variant of GRIN1 (Q05586)
R844L (p.Arg844Leu) 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 0.43 / 1. The record also includes published literature and structural context.
R844L (p.Arg844Leu) variant details
- p.Arg844Leu
- rs1564365418
- ClinGen CA375726770
- ClinVar RCV001239704
- ClinVar RCV005251189
- Pathogenic/Likely pathogenic
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- AlphaMissense 0.94
- MetaLR 0.41
- MetaSVM -0.13
- PolyPhen-2 0.60
- SIFT 0.00
- EVE 0.26
- ClinVar: Pathogenic/Likely pathogenic (Neurodevelopmental disorder with or without hyperkinetic movemen)
- EBI: Pathogenic (in NDHMSD)
- UniProt: Pathogenic (in NDHMSD)
- Structural context available
- Cited in: GRIN1-Related Neurodevelopmental Disorder. (PMID 31219694)