E46K (p.Glu46Lys) variant of SCN1A (P35498)
E46K (p.Glu46Lys) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Early-infantile DEE; Generalized epilepsy with febrile seizures pl. 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.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- rs769582667
- ClinGen CA1943562
- NCI-TCGA Cosmic COSV5766
- cosmic curated COSV57660
- Uncertain significance
- not provided; Early-infantile DEE; Generalized epilepsy with febrile seizures pl
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- CADD 23.00
- PolyPhen-2 0.96
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Early-infantile DEE; Generalized epilepsy with feb)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)