F51V (p.Phe51Val) variant of PLP1 (Myelin proteolipid protein)
F51V (p.Phe51Val) 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.
F51V (p.Phe51Val) variant details
- p.Phe51Val
- rs2522301757
- ClinVar RCV004595750
- Likely pathogenic
- Pelizaeus-Merzbacher disease
- Missense
- ClinVar: Likely pathogenic (Pelizaeus-Merzbacher disease)
- EBI: Likely pathogenic (in HLD1)
- UniProt: Likely pathogenic (in HLD1)
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)