E82K (p.Glu82Lys) variant of KCNB1 (Q14721)
E82K (p.Glu82Lys) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Developmental and epileptic encephalopathy, 26; not provided.
E82K (p.Glu82Lys) variant details
- p.Glu82Lys
- rs1980519313
- ClinGen CA408950777
- ClinVar RCV002856838
- ClinVar RCV005627463
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 26; not provided
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy, 26; not provided)
- EBI: Likely benign
- UniProt: Likely benign