M1K (p.Met1Lys) variant of PLP1 (Myelin proteolipid protein)
M1K (p.Met1Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs864622194
- ClinVar RCV004595765
- Pathogenic
- Pelizaeus-Merzbacher disease
- 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 (Pelizaeus-Merzbacher disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)