R42Q (p.Arg42Gln) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
R42Q (p.Arg42Gln) in EIF2AK4 (eIF-2-alpha kinase GCN2) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R42Q (p.Arg42Gln) variant details
- p.Arg42Gln
- rs372615103
- ClinGen CA7473385
- ClinVar RCV002748853
- ESP rs372615103
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.13
- MetaLR 0.24
- MetaSVM -0.74
- CADD 29.90
- PolyPhen-2 0.62
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)