V71D (p.Val71Asp) variant of PLP1 (Myelin proteolipid protein)
V71D (p.Val71Asp) 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. The record also includes published literature and structural context.
V71D (p.Val71Asp) variant details
- p.Val71Asp
- rs2522306682
- ClinVar RCV004595755
- Uncertain significance
- Pelizaeus-Merzbacher disease
- Missense
- ClinVar: Uncertain significance (Pelizaeus-Merzbacher disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)