G301S (p.Gly301Ser) variant of KCNQ2 (O43526)
G301S (p.Gly301Ser) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE; Developmental and epileptic encephalopathy, 7; Epileptic en. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G301S (p.Gly301Ser) variant details
- p.Gly301Ser
- rs1057516099
- ClinGen CA10654809
- cosmic curated COSV60432
- ClinVar RCV000416958
- Pathogenic
- Early-infantile DEE; Developmental and epileptic encephalopathy, 7; Epileptic en
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (Early-infantile DEE; Developmental and epileptic encephalopathy,)
- EBI: Pathogenic (in DEE7)
- UniProt: Pathogenic (in DEE7)
- Structural context available
- Cited in: Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative… (PMID 27864847)
- Cited in: Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth… (PMID 12742592)