K36E (p.Lys36Glu) variant of VPS35 (Q96QK1)
K36E (p.Lys36Glu) in VPS35 (Q96QK1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Parkinson disease 17. The record also includes published literature and structural context.
K36E (p.Lys36Glu) variant details
- p.Lys36Glu
- rs2548885790
- ClinGen CA395815493
- ClinVar RCV003007608
- Uncertain significance
- Parkinson disease 17
- Missense
- ClinVar: Uncertain significance (Parkinson disease 17)
- 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)