K82* (p.Lys82Ter) variant of MECP2 (Methyl-CpG-binding protein 2)
K82* (p.Lys82Ter) in MECP2 (Methyl-CpG-binding protein 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K82* (p.Lys82Ter) variant details
- p.Lys82Ter
- rs1603310794
- ClinGen CA415177310
- ClinVar RCV000816083
- Ensembl rs1603310794
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)