C220G (p.Cys220Gly) variant of PLP1 (Myelin proteolipid protein)
C220G (p.Cys220Gly) 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; Intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
C220G (p.Cys220Gly) variant details
- p.Cys220Gly
- rs1556270312
- ClinGen CA414104322
- ClinVar RCV000656398
- ClinVar RCV001257698
- Likely pathogenic
- Pelizaeus-Merzbacher disease; Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- EVE 0.82
- MutPred 0.81
- ClinVar: Likely pathogenic (Pelizaeus-Merzbacher disease; Intellectual disability)
- EBI: Likely pathogenic (in HLD1)
- UniProt: Likely pathogenic (in HLD1)
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)