Q1478K (p.Gln1478Lys) variant of SCN2A (Nav1.2)
Q1478K (p.Gln1478Lys) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Benign familial infantile epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
Q1478K (p.Gln1478Lys) variant details
- p.Gln1478Lys
- rs1553462132
- ClinGen CA349034326
- ClinVar RCV001847361
- Ensembl rs1553462132
- Pathogenic
- Benign familial infantile epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.79
- MetaLR 0.90
- MetaSVM 0.86
- CADD 25.70
- ClinVar: Pathogenic (Benign familial infantile epilepsy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available