R213L (p.Arg213Leu) variant of KCNQ2 (O43526)
R213L (p.Arg213Leu) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R213L (p.Arg213Leu) variant details
- p.Arg213Leu
- rs397514581
- ClinGen CA409654736
- ClinVar RCV002250066
- ClinVar RCV006558673
- Pathogenic/Likely pathogenic
- Seizures, benign familial neonatal, 1; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.91
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Seizures, benign familial neonatal, 1; Early-infantile DEE)
- EBI: Pathogenic (in BFNS1)
- UniProt: Pathogenic (in BFNS1)
- Population evidence available
- 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)