E232K (p.Glu232Lys) variant of PLP1 (Myelin proteolipid protein)
E232K (p.Glu232Lys) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pelizaeus-Merzbacher disease. The record also includes published literature and structural context.
E232K (p.Glu232Lys) variant details
- p.Glu232Lys
- rs2522318452
- ClinGen CA414104444
- ClinVar RCV003988933
- Likely pathogenic
- Pelizaeus-Merzbacher disease
- Missense
- ClinVar: Likely pathogenic (Pelizaeus-Merzbacher disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)