V793F (p.Val793Phe) variant of GRIN1 (Q05586)
V793F (p.Val793Phe) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurodevelopmental disorder with or without hyperkinetic movements and seizures. The record also includes published literature and structural context.
V793F (p.Val793Phe) variant details
- p.Val793Phe
- rs2538647926
- ClinGen CA375725405
- ClinVar RCV002285197
- Likely pathogenic
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with or without hyperkinetic movemen)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: GRIN1-Related Neurodevelopmental Disorder. (PMID 31219694)