L210Q (p.Leu210Gln) variant of SCN2A (Nav1.2)
L210Q (p.Leu210Gln) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.99 / 1. The record also includes published literature and structural context.
L210Q (p.Leu210Gln) variant details
- p.Leu210Gln
- rs1559352517
- ClinGen CA349017376
- ClinVar RCV001202780
- ClinVar RCV003163525
- Likely pathogenic
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.993
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)