R213W (p.Arg213Trp) variant of KCNQ2 (O43526)
R213W (p.Arg213Trp) 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; Autosomal dominant KCNQ2-related disorders; Inborn genetic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R213W (p.Arg213Trp) variant details
- p.Arg213Trp
- rs118192203
- ClinGen CA202848
- ClinVar RCV000178400
- ClinVar RCV000187866
- Pathogenic
- Early-infantile DEE; Autosomal dominant KCNQ2-related disorders; Inborn genetic
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.97
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Early-infantile DEE; Autosomal dominant KCNQ2-related disorders;)
- EBI: Pathogenic (in BFNS1)
- UniProt: Pathogenic (in BFNS1)
- Population evidence available
- Structural context available
- Cited in: Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders… (PMID 26993267)
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)