P8S (p.Pro8Ser) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
P8S (p.Pro8Ser) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P8S (p.Pro8Ser) variant details
- p.Pro8Ser
- TOPMed rs1315471968
- gnomAD rs1315471968
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.08
- MetaLR 0.10
- MetaSVM -1.01
- CADD 5.17
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available