P43L (p.Pro43Leu) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
P43L (p.Pro43Leu) 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.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- Ensembl rs2034030721
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.10
- MetaLR 0.08
- MetaSVM -1.08
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available