R1441G (p.Arg1441Gly) variant of LRRK2 (Q5S007)
R1441G (p.Arg1441Gly) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R1441G (p.Arg1441Gly) variant details
- p.Arg1441Gly
- rs33939927
- ClinGen CA339918
- ClinVar RCV000002013
- ClinVar RCV001659678
- Pathogenic
- not provided; Autosomal dominant Parkinson disease 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.70
- AlphaMissense 0.65
- MetaLR 0.59
- MetaSVM 0.17
- CADD 23.40
- 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 5.8e-05)
- Structural context available
- Cited in: Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. (PMID 15541308)
- Cited in: LRRK2 R1441G in Spanish patients with Parkinson's disease. (PMID 15925109)