S122L (p.Ser122Leu) variant of KCNQ2 (O43526)
S122L (p.Ser122Leu) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Early-infantile DEE; Seizures, benign familial neonatal, 1; Developmental and ep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
S122L (p.Ser122Leu) variant details
- p.Ser122Leu
- rs118192194
- ClinGen CA315351
- cosmic curated COSV60435
- ClinVar RCV000187851
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Seizures, benign familial neonatal, 1; Developmental and ep
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- AlphaMissense 0.88
- MetaLR 0.64
- MetaSVM 0.47
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; Seizures, benign familial neonatal, 1; Deve)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)