M1I (p.Met1Ile) variant of KCNQ2 (O43526)
M1I (p.Met1Ile) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Seizures, benign familial neonatal, 1; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs866273848
- ClinGen CA317424039
- ClinVar RCV002250067
- ClinVar RCV006558674
- Pathogenic
- Seizures, benign familial neonatal, 1; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (Seizures, benign familial neonatal, 1; Early-infantile DEE)
- EBI: Pathogenic
- UniProt: 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)