R1245Q (p.Arg1245Gln) variant of SCN1A (Nav1.1)
R1245Q (p.Arg1245Gln) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Early-infantile DEE; Autosomal dominant SCN1A-related disorders; Migraine, famil. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R1245Q (p.Arg1245Gln) variant details
- p.Arg1245Gln
- rs121917912
- ClinGen CA284931
- cosmic curated COSV57689
- ClinVar RCV000059406
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Autosomal dominant SCN1A-related disorders; Migraine, famil
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- CADD 27.20
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; Autosomal dominant SCN1A-related disorders;)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A… (PMID 17054684)
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)