C35Y (p.Cys35Tyr) variant of PLP1 (Myelin proteolipid protein)
C35Y (p.Cys35Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
C35Y (p.Cys35Tyr) variant details
- p.Cys35Tyr
- rs1569427275
- ClinGen CA414102070
- ClinVar RCV000768444
- ClinVar RCV003117551
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in HLD1)
- UniProt: Pathogenic (in HLD1)
- Structural context available
- Cited in: Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major… (PMID 10417279)
- Cited in: PLP1-Related Disorders. (PMID 20301361)