E40G (p.Glu40Gly) variant of LRRK2 (Q5S007)
E40G (p.Glu40Gly) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E40G (p.Glu40Gly) variant details
- p.Glu40Gly
- rs2499330993
- ClinGen CA384398642
- ClinVar RCV002344680
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.16
- MetaLR 0.09
- MetaSVM -0.83
- CADD 26.90
- PolyPhen-2 0.12
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)