M57I (p.Met57Ile) variant of VPS35 (Q96QK1)
M57I (p.Met57Ile) in VPS35 (Q96QK1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Parkinson disease 17. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
M57I (p.Met57Ile) variant details
- p.Met57Ile
- rs183554824
- ClinGen CA280221262
- ClinVar RCV000577231
- ClinVar RCV002225672
- Conflicting interpretations
- not provided; Parkinson disease 17
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.19
- CADD 20.20
- PolyPhen-2 0.02
- SIFT 0.51
- ClinVar: Conflicting classifications of pathogenicity (not provided; Parkinson disease 17)
- EBI: Likely benign (in dbSNP:rs183554824)
- UniProt: Likely benign (in dbSNP:rs183554824)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)