R210H (p.Arg210His) variant of KCNQ2 (O43526)
R210H (p.Arg210His) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R210H (p.Arg210His) variant details
- p.Arg210His
- rs886041262
- ClinGen CA10603489
- NCI-TCGA Cosmic COSV6043
- cosmic curated COSV60432
- Pathogenic
- Early-infantile DEE; not provided; Developmental and epileptic encephalopathy, 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.85
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- CADD 27.70
- PolyPhen-2 0.92
- 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: KCNQ2-Related Disorders. (PMID 20437616)