P216L (p.Pro216Leu) variant of PLP1 (Myelin proteolipid protein)
P216L (p.Pro216Leu) 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 not provided; Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
P216L (p.Pro216Leu) variant details
- p.Pro216Leu
- rs2147766958
- ClinGen CA414104290
- ClinVar RCV001379651
- ClinVar RCV002509679
- Likely pathogenic
- not provided; Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- EVE 0.65
- MutPred 0.96
- ClinVar: Likely pathogenic (not provided; Pelizaeus-Merzbacher disease; Hereditary spastic p)
- EBI: Pathogenic (in SPG2)
- UniProt: Pathogenic (in SPG2)
- Structural context available
- Cited in: A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene. (PMID 15450775)
- Cited in: PLP1-Related Disorders. (PMID 20301361)