I1122V (p.Ile1122Val) variant of LRRK2 (Q5S007)
I1122V (p.Ile1122Val) in LRRK2 (Q5S007) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant Parkinson disease 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
I1122V (p.Ile1122Val) variant details
- p.Ile1122Val
- rs34805604
- ClinGen CA339924
- ClinVar RCV000002016
- UniProt VAR 024940
- Pathogenic
- Autosomal dominant Parkinson disease 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.24
- MetaLR 0.06
- MetaSVM -1.02
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Pathogenic (Autosomal dominant Parkinson disease 8)
- EBI: Pathogenic (in PARK8)
- UniProt: Pathogenic (in PARK8)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. (PMID 15541309)
- Cited in: Lrrk2 pathogenic substitutions in Parkinson's disease. (PMID 16172858)