M206R (p.Met206Arg) variant of PLP1 (Myelin proteolipid protein)
M206R (p.Met206Arg) 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 0.74 / 1. The record also includes published literature and structural context.
M206R (p.Met206Arg) variant details
- p.Met206Arg
- rs1556269487
- ClinGen CA414104134
- ClinVar RCV000590967
- Ensembl rs1556269487
- Likely pathogenic
- Pelizaeus-Merzbacher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- AlphaMissense 0.90
- MetaLR 0.93
- MetaSVM 1.04
- PolyPhen-2 0.92
- EVE 0.14
- MutPred 0.65
- ClinVar: Likely pathogenic (Pelizaeus-Merzbacher disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)