M106K (p.Met106Lys) variant of PCDH19 (Protocadherin-19)
M106K (p.Met106Lys) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 9. The record also includes structural context.
M106K (p.Met106Lys) variant details
- p.Met106Lys
- rs2520995882
- ClinGen CA414010708
- ClinVar RCV002291240
- Likely pathogenic
- Developmental and epileptic encephalopathy, 9
- Missense
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 9)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available