F32S (p.Phe32Ser) variant of PLP1 (Myelin proteolipid protein)
F32S (p.Phe32Ser) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 2. The record also includes published literature and structural context.
F32S (p.Phe32Ser) variant details
- p.Phe32Ser
- rs2522301339
- ClinGen CA414102038
- ClinVar RCV003021782
- Uncertain significance
- Hereditary spastic paraplegia 2
- Missense
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 2)
- EBI: Variant of uncertain significance (in HLD1)
- UniProt: Uncertain significance (in HLD1)
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)