F237V (p.Phe237Val) variant of PLP1 (Myelin proteolipid protein)
F237V (p.Phe237Val) 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 0.76 / 1. The record also includes published literature and structural context.
F237V (p.Phe237Val) variant details
- p.Phe237Val
- rs1602385663
- ClinGen CA414104540
- ClinVar RCV001007563
- Ensembl rs1602385663
- Likely pathogenic
- Pelizaeus-Merzbacher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.97
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 0.24
- EVE 0.31
- MutPred 0.81
- ClinVar: Likely pathogenic (Pelizaeus-Merzbacher disease)
- EBI: Likely pathogenic (in SPG2)
- UniProt: Likely pathogenic (in SPG2)
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)