C33F (p.Cys33Phe) variant of PLP1 (Myelin proteolipid protein)
C33F (p.Cys33Phe) 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 Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
C33F (p.Cys33Phe) variant details
- p.Cys33Phe
- rs1064794255
- ClinGen CA414102051
- ClinVar RCV002009750
- ClinVar RCV003136402
- Uncertain significance
- Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Uncertain significance (Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2)
- EBI: Likely pathogenic (in HLD1)
- UniProt: Likely pathogenic (in HLD1)
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)