L10P (p.Leu10Pro) variant of PARK7 (Parkinson disease protein 7)
L10P (p.Leu10Pro) in PARK7 (Parkinson disease protein 7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in PARK7. The record also includes published literature and structural context.
L10P (p.Leu10Pro) variant details
- p.Leu10Pro
- Ensembl rs1553122735
- UniProt VAR 084339
- Uncertain significance
- in PARK7
- Missense
- EBI: Variant of uncertain significance (in PARK7)
- UniProt: Uncertain significance (in PARK7)
- Structural context available
- Cited in: Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset… (PMID 18785233)
- Cited in: Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. (PMID 12446870)