L22F (p.Leu22Phe) variant of SCN9A (Q15858)
L22F (p.Leu22Phe) 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.
L22F (p.Leu22Phe) variant details
- p.Leu22Phe
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10031
- 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