R58S (p.Arg58Ser) variant of KCNQ2 (O43526)
R58S (p.Arg58Ser) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy, 7. The record also includes published literature and structural context.
R58S (p.Arg58Ser) variant details
- p.Arg58Ser
- rs2145921606
- ClinGen CA2573054907
- ClinVar RCV001786538
- Ensembl rs2145921606
- Pathogenic
- Developmental and epileptic encephalopathy, 7
- Missense
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 7)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)