L46P (p.Leu46Pro) variant of PLP1 (Myelin proteolipid protein)
L46P (p.Leu46Pro) 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.
L46P (p.Leu46Pro) variant details
- p.Leu46Pro
- rs2522301673
- ClinVar RCV004595808
- UniProt VAR 015019
- Likely pathogenic
- Pelizaeus-Merzbacher disease
- Missense
- ClinVar: Likely pathogenic (Pelizaeus-Merzbacher disease)
- EBI: Pathogenic (in HLD1)
- UniProt: Pathogenic (in HLD1)
- Structural context available
- Cited in: Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease. (PMID 15712223)
- Cited in: Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with… (PMID 9934976)