R853Q (p.Arg853Gln) variant of SCN2A (Nav1.2)
R853Q (p.Arg853Gln) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Complex neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
R853Q (p.Arg853Gln) variant details
- p.Arg853Gln
- rs794727152
- ClinGen CA210022
- cosmic curated COSV10804
- ClinVar RCV000174944
- Pathogenic
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic (Complex neurodevelopmental disorder)
- EBI: Pathogenic (in DEE11)
- UniProt: Pathogenic (in DEE11)
- Structural context available
- Cited in: Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. (PMID 23935176)
- Cited in: De novo R853Q mutation of SCN2A gene and West syndrome. (PMID 25772804)