D57Y (p.Asp57Tyr) variant of PLP1 (Myelin proteolipid protein)
D57Y (p.Asp57Tyr) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
D57Y (p.Asp57Tyr) variant details
- p.Asp57Tyr
- rs132630296
- ClinGen CA255715
- ClinVar RCV000011848
- Ensembl rs132630296
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 0.87
- MetaLR 0.98
- MetaSVM 1.10
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.62
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Spastic paraplegia with iron deposits in the basal ganglia: a new X-linked mental retardation syndrome. (PMID 1605230)
- Cited in: Arena syndrome is caused by a missense mutation in PLP1. (PMID 19396823)