R1629H (p.Arg1629His) variant of SCN2A (Nav1.2)
R1629H (p.Arg1629His) 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 SCN2A-related generalized epilepsy with febrile seizures plus; Seizures, benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
R1629H (p.Arg1629His) variant details
- p.Arg1629His
- rs796053157
- ClinGen CA318018
- cosmic curated COSV10876
- ClinVar RCV000189171
- Pathogenic/Likely pathogenic
- SCN2A-related generalized epilepsy with febrile seizures plus; Seizures, benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 0.10
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (SCN2A-related generalized epilepsy with febrile seizures plus; S)
- EBI: Pathogenic (in DEE11)
- UniProt: Pathogenic (in DEE11)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)