H148Y (p.His148Tyr) variant of PLP1 (Myelin proteolipid protein)
H148Y (p.His148Tyr) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary spastic paraplegia; Pelizaeus-Merzbacher disease; Hereditary spastic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
H148Y (p.His148Tyr) variant details
- p.His148Tyr
- rs2147764634
- ClinGen CA414102951
- ClinVar RCV001848569
- ClinVar RCV002286852
- Pathogenic/Likely pathogenic
- Hereditary spastic paraplegia; Pelizaeus-Merzbacher disease; Hereditary spastic
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- AlphaMissense 0.47
- MetaLR 0.97
- MetaSVM 1.12
- PolyPhen-2 0.81
- MutPred 0.90
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spastic paraplegia; Pelizaeus-Merzbacher disease; Her)
- EBI: Pathogenic (in HLD1 and SPG2)
- UniProt: Pathogenic (in HLD1 and SPG2)
- Structural context available
- Cited in: Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance… (PMID 10319897)
- Cited in: Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease. (PMID 15712223)