R1441C (p.Arg1441Cys) variant of LRRK2 (Q5S007)
R1441C (p.Arg1441Cys) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R1441C (p.Arg1441Cys) variant details
- p.Arg1441Cys
- rs33939927
- ClinGen CA339922
- ClinVar RCV000002015
- ClinVar RCV002472921
- Pathogenic
- not provided; Autosomal dominant Parkinson disease 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.73
- AlphaMissense 0.65
- MetaLR 0.59
- MetaSVM 0.17
- CADD 23.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Autosomal dominant Parkinson disease 8)
- EBI: Pathogenic (in PARK8)
- UniProt: Pathogenic (in PARK8)
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. (PMID 15541309)
- Cited in: A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations. (PMID 16157909)