H1853R (p.His1853Arg) variant of SCN2A (Nav1.2)
H1853R (p.His1853Arg) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy; West syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
H1853R (p.His1853Arg) variant details
- p.His1853Arg
- rs2105403389
- ClinGen CA349039349
- ClinVar RCV001847353
- ClinVar RCV001847354
- Pathogenic
- Developmental and epileptic encephalopathy; West syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy; West syndrome)
- EBI: Pathogenic (in DEE11)
- UniProt: Pathogenic (in DEE11)
- Structural context available
- Cited in: Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. (PMID 24463883)
- Cited in: Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. (PMID 19783390)