P16L (p.Pro16Leu) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
P16L (p.Pro16Leu) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- rs922734815
- ClinGen CA268745496
- ClinVar RCV004377721
- TOPMed rs922734815
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.09
- MetaLR 0.13
- MetaSVM -0.97
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-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)