V295M (p.Val295Met) variant of VPS35 (Q96QK1)
V295M (p.Val295Met) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V295M (p.Val295Met) variant details
- p.Val295Met
- rs779641969
- ClinGen CA395810809
- ClinVar RCV003826438
- ExAC rs779641969
- Uncertain significance
- Parkinson disease 17
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.55
- CADD 24.20
- PolyPhen-2 0.96
- SIFT 0.09
- ClinVar: Uncertain significance (Parkinson disease 17)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: VPS35-Related Parkinson Disease. (PMID 28796472)