G246W (p.Gly246Trp) variant of PLP1 (Myelin proteolipid protein)
G246W (p.Gly246Trp) 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 0.95 / 1. The record also includes published literature and structural context.
G246W (p.Gly246Trp) variant details
- p.Gly246Trp
- rs2147768028
- ClinVar RCV004595800
- Likely pathogenic
- Pelizaeus-Merzbacher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- EVE 0.85
- MutPred 0.84
- ClinVar: Likely pathogenic (Pelizaeus-Merzbacher disease)
- EBI: Likely pathogenic (in HLD1)
- UniProt: Likely pathogenic (in HLD1)
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)