M1R (p.Met1Arg) variant of PLP1 (Myelin proteolipid protein)
M1R (p.Met1Arg) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Pelizaeus-Merzbacher disease; Hereditary spastic parapl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs864622194
- ClinGen CA414101585
- ClinVar RCV000624524
- ClinVar RCV001805225
- Pathogenic
- Inborn genetic diseases; Pelizaeus-Merzbacher disease; Hereditary spastic parapl
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- MetaLR 0.91
- MetaSVM 0.96
- PolyPhen-2 0.67
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (Inborn genetic diseases; Pelizaeus-Merzbacher disease; Hereditar)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)