F32L (p.Phe32Leu) variant of PLP1 (Myelin proteolipid protein)
F32L (p.Phe32Leu) 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.
F32L (p.Phe32Leu) variant details
- p.Phe32Leu
- rs2522301325
- ClinVar RCV004595809
- UniProt VAR 015015
- 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: Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations.… (PMID 11093273)
- Cited in: PLP1-Related Disorders. (PMID 20301361)