S26L (p.Ser26Leu) variant of SCN1B (Q07699)
S26L (p.Ser26Leu) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Generalized epilepsy with febrile seizures plus, type 1; Developmental and epile. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
S26L (p.Ser26Leu) variant details
- p.Ser26Leu
- rs768653839
- ClinGen CA9371951
- NCI-TCGA Cosmic COSV5289
- cosmic curated COSV52893
- Uncertain significance
- Generalized epilepsy with febrile seizures plus, type 1; Developmental and epile
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.94
- MetaSVM 1.06
- CADD 28.50
- ClinVar: Uncertain significance (Generalized epilepsy with febrile seizures plus, type 1; Develop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)