Q429K (p.Gln429Lys) variant of SCN1A (Nav1.1)
Q429K (p.Gln429Lys) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy 6B; Migraine, familial hemiplegic, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Q429K (p.Gln429Lys) variant details
- p.Gln429Lys
- rs1455927233
- ClinGen CA349070767
- cosmic curated COSV10440
- ClinVar RCV003883365
- Pathogenic
- Developmental and epileptic encephalopathy 6B; Migraine, familial hemiplegic, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- AlphaMissense 0.76
- MetaLR 0.95
- MetaSVM 1.09
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy 6B; Migraine, familia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)