R1882Q (p.Arg1882Gln) variant of SCN2A (Nav1.2)
R1882Q (p.Arg1882Gln) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
R1882Q (p.Arg1882Gln) variant details
- p.Arg1882Gln
- rs794727444
- ClinGen CA202100
- NCI-TCGA Cosmic COSV5183
- cosmic curated COSV51836
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- EBI: Pathogenic (in DEE11)
- UniProt: Pathogenic (in DEE11)
- Structural context available
- Cited in: Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. (PMID 23708187)
- Cited in: SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. (PMID 26291284)