I241M (p.Ile241Met) variant of VPS35 (Q96QK1)
I241M (p.Ile241Met) in VPS35 (Q96QK1) is a missense change. The available record places it in the context of Parkinson disease 17. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
I241M (p.Ile241Met) variant details
- p.Ile241Met
- rs192783364
- ClinGen CA280216049
- ClinVar RCV000577548
- UniProt VAR 066656
- not provided
- Parkinson disease 17
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- AlphaMissense 0.07
- MetaLR 0.08
- MetaSVM -1.10
- PolyPhen-2 0.95
- SIFT 0.18
- MutPred 0.32
- ClinVar: not provided (Parkinson disease 17)
- EBI: Benign (found in a patient with Parkinson disease)
- UniProt: Benign (found in a patient with Parkinson disease)
- Structural context available
- Cited in: A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. (PMID 21763483)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)