G2019S (p.Gly2019Ser) variant of LRRK2 (Q5S007)
G2019S (p.Gly2019Ser) in LRRK2 (Q5S007) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic; risk factor in the context of Inborn genetic diseases; Young-onset Parkinson disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G2019S (p.Gly2019Ser) variant details
- p.Gly2019Ser
- rs34637584
- ClinGen CA339926
- ClinVar RCV000002017
- ClinVar RCV000325492
- Pathogenic/Likely pathogenic; risk factor
- Inborn genetic diseases; Young-onset Parkinson disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 1.00
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic; risk factor (Inborn genetic diseases; Young-onset Parkinson disease; not prov)
- EBI: Pathogenic (in PARK8)
- UniProt: Pathogenic (in PARK8)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. (PMID 15680455)
- Cited in: A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. (PMID 15680456)