R213Q (p.Arg213Gln) variant of KCNQ2 (O43526)
R213Q (p.Arg213Gln) 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 DEE; Inborn genetic diseases; Seizures, benign familial neonatal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R213Q (p.Arg213Gln) variant details
- p.Arg213Gln
- rs397514581
- ClinGen CA130528
- cosmic curated COSV10590
- ClinVar RCV000032979
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Inborn genetic diseases; Seizures, benign familial neonatal
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.90
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; Inborn genetic diseases; Seizures, benign f)
- EBI: Pathogenic (in BFNS1 and DEE7)
- UniProt: Pathogenic (in BFNS1 and DEE7)
- Population evidence available
- Structural context available
- Cited in: KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. (PMID 22275249)
- Cited in: Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. (PMID 25982755)