M26I (p.Met26Ile) variant of PARK7 (Parkinson disease protein 7)
M26I (p.Met26Ile) in PARK7 (Parkinson disease protein 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive early-onset Parkinson disease 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
M26I (p.Met26Ile) variant details
- p.Met26Ile
- rs74315351
- ClinGen CA254092
- cosmic curated COSV58580
- ClinVar RCV000007481
- Pathogenic
- Autosomal recessive early-onset Parkinson disease 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- AlphaMissense 0.92
- MetaLR 0.36
- MetaSVM -0.30
- PolyPhen-2 0.00
- SIFT 0.01
- EVE 0.20
- ClinVar: Pathogenic (Autosomal recessive early-onset Parkinson disease 7)
- EBI: Pathogenic (in PARK7)
- UniProt: Pathogenic (in PARK7)
- Structural context available
- Cited in: The role of pathogenic DJ-1 mutations in Parkinson's disease. (PMID 12953260)
- Cited in: A missense mutation (L166P) in DJ-1, linked to familial Parkinson's disease, confers reduced protein stability and… (PMID 14713311)