Q5* (p.Gln5Ter) variant of VPS35 (Q96QK1)
Q5* (p.Gln5Ter) in VPS35 (Q96QK1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
Q5* (p.Gln5Ter) variant details
- p.Gln5Ter
- rs2143009092
- ClinGen CA395816150
- ClinVar RCV001358877
- Ensembl rs2143009092
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: VPS35-Related Parkinson Disease. (PMID 28796472)