P8H (p.Pro8His) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
P8H (p.Pro8His) 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.
P8H (p.Pro8His) variant details
- p.Pro8His
- gnomAD rs2034028168
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.13
- MetaLR 0.14
- MetaSVM -0.97
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available