F68L (p.Phe68Leu) variant of PLP1 (Myelin proteolipid protein)
F68L (p.Phe68Leu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
F68L (p.Phe68Leu) variant details
- p.Phe68Leu
- rs1483853759
- ClinGen CA414102416
- ClinVar RCV001977344
- TOPMed rs1483853759
- Uncertain significance
- Hereditary spastic paraplegia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.24
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)