R210C (p.Arg210Cys) variant of KCNQ2 (O43526)
R210C (p.Arg210Cys) 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; Developmental and epileptic encephalopathy, 7; Seizures, be. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R210C (p.Arg210Cys) variant details
- p.Arg210Cys
- rs796052626
- ClinGen CA315370
- NCI-TCGA Cosmic COSV6043
- cosmic curated COSV60433
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Developmental and epileptic encephalopathy, 7; Seizures, be
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; Developmental and epileptic encephalopathy,)
- EBI: Pathogenic (in DEE7)
- UniProt: Pathogenic (in DEE7)
- Population evidence available
- Structural context available
- Cited in: Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. (PMID 25818041)
- Cited in: Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth… (PMID 12742592)