L979W (p.Leu979Trp) variant of SCN2A (Nav1.2)
L979W (p.Leu979Trp) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inborn genetic diseases; Developmental and epileptic encephalopathy, 11; Seizure. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
L979W (p.Leu979Trp) variant details
- p.Leu979Trp
- rs1553583544
- ClinGen CA349019393
- ClinVar RCV001266154
- ClinVar RCV003770387
- Likely pathogenic
- Inborn genetic diseases; Developmental and epileptic encephalopathy, 11; Seizure
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Inborn genetic diseases; Developmental and epileptic encephalopa)
- 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)