P15L (p.Pro15Leu) variant of PLP1 (Myelin proteolipid protein)
P15L (p.Pro15Leu) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary spastic paraplegia 2; Pelizaeus-Merzbacher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- rs11543022
- ClinGen CA255678
- ClinVar RCV000011824
- ClinVar RCV001851798
- Pathogenic/Likely pathogenic
- not provided; Hereditary spastic paraplegia 2; Pelizaeus-Merzbacher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary spastic paraplegia 2; Pelizaeus-Merzbac)
- EBI: Pathogenic (in HLD1)
- UniProt: Pathogenic (in HLD1)
- Structural context available
- Cited in: Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant. (PMID 2480601)
- Cited in: PLP1-Related Disorders. (PMID 20301361)