I2020T (p.Ile2020Thr) variant of LRRK2 (Q5S007)
I2020T (p.Ile2020Thr) in LRRK2 (Q5S007) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Autosomal dominant Parkinson disease 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
I2020T (p.Ile2020Thr) variant details
- p.Ile2020Thr
- rs35870237
- ClinGen CA339928
- ClinVar RCV000002018
- ClinVar RCV001311806
- Pathogenic
- not provided; Autosomal dominant Parkinson disease 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- MutPred 0.85
- ClinVar: Pathogenic (not provided; Autosomal dominant Parkinson disease 8)
- EBI: Pathogenic (in PARK8)
- UniProt: Pathogenic (in PARK8)
- Structural context available
- Cited in: Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. (PMID 15541309)
- Cited in: An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family. (PMID 15880653)