P173S (p.Pro173Ser) variant of PLP1 (Myelin proteolipid protein)
P173S (p.Pro173Ser) 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.
P173S (p.Pro173Ser) variant details
- p.Pro173Ser
- rs2522314448
- ClinVar RCV004595783
- UniProt VAR 046913
- 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: PLP1-Related Disorders. (PMID 20301361)