M1V (p.Met1Val) variant of PLP1 (Myelin proteolipid protein)
M1V (p.Met1Val) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs797045064
- ClinGen CA276159
- ClinVar RCV000191119
- ClinVar RCV001857679
- Pathogenic
- Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- MetaLR 0.93
- MetaSVM 0.91
- PolyPhen-2 0.00
- SIFT 0.05
- MutPred 1.00
- ClinVar: Pathogenic (Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)