G8R (p.Gly8Arg) variant of LRRK2 (Q5S007)
G8R (p.Gly8Arg) in LRRK2 (Q5S007) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant Parkinson disease 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
G8R (p.Gly8Arg) variant details
- p.Gly8Arg
- rs981632250
- ClinGen CA235343462
- ClinVar RCV002598793
- TOPMed rs981632250
- Uncertain significance
- Autosomal dominant Parkinson disease 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.05
- MetaLR 0.09
- MetaSVM -1.06
- CADD 24.50
- PolyPhen-2 0.55
- SIFT 0.16
- ClinVar: Uncertain significance (Autosomal dominant Parkinson disease 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: LRRK2-Related Parkinson Disease. (PMID 20301387)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)