E140K (p.Glu140Lys) variant of PCDH19 (Protocadherin-19)
E140K (p.Glu140Lys) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy, 9. The record also includes structural context.
E140K (p.Glu140Lys) variant details
- p.Glu140Lys
- rs2520994737
- ClinGen CA414009784
- ClinVar RCV003622884
- Pathogenic
- Developmental and epileptic encephalopathy, 9
- Missense
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 9)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available