R553W (p.Arg553Trp) variant of KCNQ2 (O43526)
R553W (p.Arg553Trp) 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; not provided; Developmental and epileptic encephalopathy, 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R553W (p.Arg553Trp) variant details
- p.Arg553Trp
- rs759584387
- ClinGen CA278566
- ClinVar RCV000187912
- ClinVar RCV000203596
- Pathogenic
- Early-infantile DEE; not provided; Developmental and epileptic encephalopathy, 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 7; Seizures, benign)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)