R54Q (p.Arg54Gln) variant of VPS35 (Q96QK1)
R54Q (p.Arg54Gln) in VPS35 (Q96QK1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Parkinson disease 17. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R54Q (p.Arg54Gln) variant details
- p.Arg54Gln
- ExAC rs770464667
- TOPMed rs770464667
- gnomAD rs770464667
- Uncertain significance
- Parkinson disease 17
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.61
- CADD 28.20
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (Parkinson disease 17)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available