C33Y (p.Cys33Tyr) variant of PLP1 (Myelin proteolipid protein)
C33Y (p.Cys33Tyr) 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 0.95 / 1. The record also includes published literature and structural context.
C33Y (p.Cys33Tyr) variant details
- p.Cys33Tyr
- rs1064794255
- ClinGen CA16621168
- ClinVar RCV000481592
- UniProt VAR 046906
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in HLD1)
- UniProt: Pathogenic (in HLD1)
- Structural context available
- Cited in: Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease. (PMID 15712223)
- Cited in: Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major… (PMID 10417279)