A248E (p.Ala248Glu) variant of PLP1 (Myelin proteolipid protein)
A248E (p.Ala248Glu) 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 0.91 / 1. The record also includes published literature and structural context.
A248E (p.Ala248Glu) variant details
- p.Ala248Glu
- rs917348091
- ClinGen CA414104659
- NCI-TCGA Cosmic COSV5827
- cosmic curated COSV58276
- Likely pathogenic
- Pelizaeus-Merzbacher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.12
- PolyPhen-2 1.00
- EVE 0.68
- MutPred 0.93
- ClinVar: Likely pathogenic (Pelizaeus-Merzbacher disease)
- EBI: Pathogenic (in HLD1)
- UniProt: Pathogenic (in HLD1)
- Structural context available
- Cited in: Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major… (PMID 10417279)
- Cited in: PLP1-Related Disorders. (PMID 20301361)