G42E (p.Gly42Glu) variant of ARID2 (Q68CP9)
G42E (p.Gly42Glu) in ARID2 (Q68CP9) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G42E (p.Gly42Glu) variant details
- p.Gly42Glu
- rs2137959735
- ClinGen CA384609164
- ClinVar RCV002898437
- Ensembl rs2137959735
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.49
- MetaLR 0.49
- MetaSVM -0.05
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)