A36S (p.Ala36Ser) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
A36S (p.Ala36Ser) 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 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A36S (p.Ala36Ser) variant details
- p.Ala36Ser
- rs1417044761
- ClinGen CA391686554
- ClinVar RCV002902514
- NCI-TCGA TCGA novel
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -1.06
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)