R333W (p.Arg333Trp) variant of KCNQ2 (O43526)
R333W (p.Arg333Trp) 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 developmental and epileptic encephalopathy; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R333W (p.Arg333Trp) variant details
- p.Arg333Trp
- rs118192215
- ClinGen CA315400
- cosmic curated COSV60435
- ClinVar RCV000187879
- Pathogenic/Likely pathogenic
- Early-infantile developmental and epileptic encephalopathy; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.94
- CADD 28.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile developmental and epileptic encephalopathy; Earl)
- EBI: Pathogenic (in BFNS1)
- UniProt: Pathogenic (in BFNS1)
- Population evidence available
- 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)