W163R (p.Trp163Arg) variant of PLP1 (Myelin proteolipid protein)
W163R (p.Trp163Arg) 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 not provided; 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.
W163R (p.Trp163Arg) variant details
- p.Trp163Arg
- rs132630279
- ClinGen CA221105
- ClinVar RCV000011823
- ClinVar RCV000079097
- Likely pathogenic
- not provided; Pelizaeus-Merzbacher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- EVE 0.85
- MutPred 0.95
- ClinVar: Likely pathogenic (not provided; Pelizaeus-Merzbacher disease)
- EBI: Pathogenic (in HLD1)
- UniProt: Pathogenic (in HLD1)
- Structural context available
- Cited in: Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. (PMID 2479017)
- Cited in: Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease. (PMID 3827224)