Y58C (p.Tyr58Cys) variant of PLP1 (Myelin proteolipid protein)
Y58C (p.Tyr58Cys) 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 Pelizaeus-Merzbacher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
Y58C (p.Tyr58Cys) variant details
- p.Tyr58Cys
- rs2074490307
- ClinGen CA414102342
- ClinVar RCV001196160
- Ensembl rs2074490307
- Pathogenic/Likely pathogenic
- Pelizaeus-Merzbacher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- AlphaMissense 0.86
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.56
- ClinVar: Pathogenic/Likely pathogenic (Pelizaeus-Merzbacher disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)