R377Q (p.Arg377Gln) variant of SCN1A (Nav1.1)
R377Q (p.Arg377Gln) 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; not provided; Generalized epilepsy with febrile seizures pl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R377Q (p.Arg377Gln) variant details
- p.Arg377Gln
- rs121917957
- ClinGen CA266086
- ClinVar RCV000059374
- ClinVar RCV000180936
- Pathogenic/Likely pathogenic
- Early-infantile DEE; not provided; Generalized epilepsy with febrile seizures pl
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; not provided; Generalized epilepsy with feb)
- EBI: Pathogenic (in GEFSP2)
- UniProt: Pathogenic (in GEFSP2)
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. (PMID 18413471)
- Cited in: Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. (PMID 10742094)