F244V (p.Phe244Val) variant of PLP1 (Myelin proteolipid protein)
F244V (p.Phe244Val) 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.
F244V (p.Phe244Val) variant details
- p.Phe244Val
- rs1183400865
- ClinVar RCV004595799
- Likely pathogenic
- Pelizaeus-Merzbacher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 0.91
- PolyPhen-2 0.98
- EVE 0.15
- MutPred 0.69
- ClinVar: Likely pathogenic (Pelizaeus-Merzbacher disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)