E45K (p.Glu45Lys) variant of SCN9A (Q15858)
E45K (p.Glu45Lys) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Generalized epilepsy with febrile seizures plus, type 7; Neuropathy, hereditary. The record also includes structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- cosmic curated COSV10588
- Uncertain significance
- Generalized epilepsy with febrile seizures plus, type 7; Neuropathy, hereditary
- Missense
- ClinVar: Uncertain significance (Generalized epilepsy with febrile seizures plus, type 7; Neuropa)
- UniProt: Uncertain significance
- Structural context available