L206R (p.Leu206Arg) variant of KCNQ2 (O43526)
L206R (p.Leu206Arg) 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; Developmental and epileptic encephalopath. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
L206R (p.Leu206Arg) variant details
- p.Leu206Arg
- rs1339542565
- ClinGen CA409654773
- ClinVar RCV001786544
- ClinVar RCV001824180
- Pathogenic
- Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopath
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Seizures, benign familial neonatal, 1; Developmental and epilept)
- 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)