L85R (p.Leu85Arg) variant of PLP1 (Myelin proteolipid protein)
L85R (p.Leu85Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L85R (p.Leu85Arg) variant details
- p.Leu85Arg
- rs2074498206
- ClinVar RCV004595762
- ClinVar RCV005255786
- Likely pathogenic
- Pelizaeus-Merzbacher disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.07
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Pelizaeus-Merzbacher disease; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)