N350K (p.Asn350Lys) variant of KCNQ2 (O43526)
N350K (p.Asn350Lys) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Early-infantile DEE; Seizures, benign familial neonatal, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
N350K (p.Asn350Lys) variant details
- p.Asn350Lys
- rs1371059392
- ClinGen CA409651213
- ClinVar RCV000990331
- ClinVar RCV006612527
- Likely pathogenic
- Early-infantile DEE; Seizures, benign familial neonatal, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- AlphaMissense 0.95
- MetaLR 0.96
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.68
- ClinVar: Likely pathogenic (Early-infantile DEE; Seizures, benign familial neonatal, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)