E29K (p.Glu29Lys) variant of SCN1B (Q07699)
E29K (p.Glu29Lys) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Generalized epilepsy with febrile seizures plus, type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E29K (p.Glu29Lys) variant details
- p.Glu29Lys
- rs767384862
- ClinGen CA9371954
- ClinVar RCV000789049
- ClinVar RCV001222654
- Uncertain significance
- Cardiovascular phenotype; Generalized epilepsy with febrile seizures plus, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.81
- ESM-1b 0.00
- AlphaMissense 0.90
- MetaLR 0.87
- MetaSVM 0.86
- CADD 32.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Generalized epilepsy with febrile seiz)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)