C184Y (p.Cys184Tyr) variant of PLP1 (Myelin proteolipid protein)
C184Y (p.Cys184Tyr) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pelizaeus-Merzbacher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
C184Y (p.Cys184Tyr) variant details
- p.Cys184Tyr
- rs1602384238
- ClinGen CA414103887
- ClinVar RCV000990922
- Ensembl rs1602384238
- Likely pathogenic
- Pelizaeus-Merzbacher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- EVE 0.78
- MutPred 0.91
- ClinVar: Likely pathogenic (Pelizaeus-Merzbacher disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)