C25F (p.Cys25Phe) variant of PLP1 (Myelin proteolipid protein)
C25F (p.Cys25Phe) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pelizaeus-Merzbacher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
C25F (p.Cys25Phe) variant details
- p.Cys25Phe
- rs2147762985
- ClinGen CA414101961
- ClinVar RCV002255778
- Ensembl rs2147762985
- Uncertain significance
- Pelizaeus-Merzbacher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- AlphaMissense 0.91
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.53
- ClinVar: Uncertain significance (Pelizaeus-Merzbacher disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)