S222C (p.Ser222Cys) variant of PLP1 (Myelin proteolipid protein)
S222C (p.Ser222Cys) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pelizaeus-Merzbacher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
S222C (p.Ser222Cys) variant details
- p.Ser222Cys
- rs2147766999
- ClinGen CA414104346
- ClinVar RCV002250251
- Ensembl rs2147766999
- Pathogenic
- Pelizaeus-Merzbacher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- AlphaMissense 0.80
- MetaLR 0.97
- MetaSVM 1.05
- PolyPhen-2 0.97
- EVE 0.41
- MutPred 0.58
- ClinVar: Pathogenic (Pelizaeus-Merzbacher disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)