K1260E (p.Lys1260Glu) variant of SCN2A (Nav1.2)
K1260E (p.Lys1260Glu) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Complex neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
K1260E (p.Lys1260Glu) variant details
- p.Lys1260Glu
- rs1553591813
- ClinGen CA349028090
- ClinVar RCV001265331
- Ensembl rs1553591813
- Likely pathogenic
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Complex neurodevelopmental disorder)
- EBI: Pathogenic (in DEE11)
- UniProt: Pathogenic (in DEE11)
- Structural context available
- Cited in: Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders… (PMID 26993267)
- Cited in: Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. (PMID 19783390)