K82N (p.Lys82Asn) variant of MECP2 (Methyl-CpG-binding protein 2)
K82N (p.Lys82Asn) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Focal epilepsy; Rett syndrome. The record also includes structural context.
K82N (p.Lys82Asn) variant details
- p.Lys82Asn
- NCI-TCGA TCGA novel
- Likely pathogenic
- Focal epilepsy; Rett syndrome
- Missense
- ClinVar: Likely pathogenic (Focal epilepsy; Rett syndrome)
- UniProt: Likely pathogenic
- Structural context available