C33R (p.Cys33Arg) variant of PLP1 (Myelin proteolipid protein)
C33R (p.Cys33Arg) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Pelizaeus-Merzbacher disease. The record also includes structural context.
C33R (p.Cys33Arg) variant details
- p.Cys33Arg
- NCI-TCGA TCGA novel
- Uncertain significance
- Pelizaeus-Merzbacher disease
- Missense
- ClinVar: Uncertain significance (Pelizaeus-Merzbacher disease)
- UniProt: Uncertain significance (in HLD1)
- Structural context available