G8E (p.Gly8Glu) variant of LRRK2 (Q5S007)
G8E (p.Gly8Glu) in LRRK2 (Q5S007) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G8E (p.Gly8Glu) variant details
- p.Gly8Glu
- rs1052256144
- TOPMed rs1052256144
- gnomAD rs1052256144
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.12
- MetaLR 0.05
- MetaSVM -1.06
- CADD 22.00
- PolyPhen-2 0.45
- SIFT 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available