V607G (p.Val607Gly) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
V607G (p.Val607Gly) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial pulmonary capillary hemangiomatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
V607G (p.Val607Gly) variant details
- p.Val607Gly
- rs1595403854
- ClinGen CA391683579
- ClinVar RCV001003765
- Ensembl rs1595403854
- Likely pathogenic
- Familial pulmonary capillary hemangiomatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- AlphaMissense 0.80
- MetaLR 0.08
- MetaSVM -1.04
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.65
- ClinVar: Likely pathogenic (Familial pulmonary capillary hemangiomatosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Clinical Practice Guideline for the Management of Infantile Hemangiomas. (PMID 30584062)