A14D (p.Ala14Asp) variant of PLP1 (Myelin proteolipid protein)
A14D (p.Ala14Asp) 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; Hereditary spastic paraplegia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
A14D (p.Ala14Asp) variant details
- p.Ala14Asp
- rs1569427243
- ClinGen CA414101853
- ClinVar RCV000680073
- Ensembl rs1569427243
- Uncertain significance
- Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- AlphaMissense 0.97
- MetaLR 0.93
- MetaSVM 1.00
- PolyPhen-2 0.77
- SIFT 0.00
- EVE 0.21
- ClinVar: Uncertain significance (Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)