R12P (p.Arg12Pro) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
R12P (p.Arg12Pro) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R12P (p.Arg12Pro) variant details
- p.Arg12Pro
- gnomAD 15-39934230-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.09
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available