D620N (p.Asp620Asn) variant of VPS35 (Q96QK1)
D620N (p.Asp620Asn) in VPS35 (Q96QK1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Parkinson disease 17. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
D620N (p.Asp620Asn) variant details
- p.Asp620Asn
- rs188286943
- ClinGen CA259758
- ClinVar RCV000023115
- ClinVar RCV004719658
- Pathogenic
- not provided; Parkinson disease 17
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- AlphaMissense 0.92
- MetaLR 0.52
- MetaSVM 0.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.91
- ClinVar: Pathogenic (not provided; Parkinson disease 17)
- EBI: Pathogenic (in PARK17)
- UniProt: Pathogenic (in PARK17)
- Structural context available
- Cited in: Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family. (PMID 18342564)
- Cited in: VPS35 mutations in Parkinson disease. (PMID 21763482)