R201C (p.Arg201Cys) variant of KCNQ2 (O43526)
R201C (p.Arg201Cys) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R201C (p.Arg201Cys) variant details
- p.Arg201Cys
- rs796052623
- ClinGen CA278564
- ClinVar RCV000187858
- ClinVar RCV000203591
- Pathogenic
- Early-infantile DEE; not provided; Developmental and epileptic encephalopathy, 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.93
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Early-infantile DEE; not provided; Developmental and epileptic e)
- EBI: Pathogenic (in DEE7)
- UniProt: Pathogenic (in DEE7)
- Population evidence available
- Structural context available
- Cited in: Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3… (PMID 25740509)
- Cited in: Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders… (PMID 26993267)