Q39E (p.Gln39Glu) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
Q39E (p.Gln39Glu) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q39E (p.Gln39Glu) variant details
- p.Gln39Glu
- rs771007706
- ClinGen CA7473383
- ClinVar RCV004377705
- ExAC rs771007706
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.14
- MetaLR 0.04
- MetaSVM -1.06
- CADD 18.40
- PolyPhen-2 0.04
- SIFT 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- 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)