G1109R (p.Gly1109Arg) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
G1109R (p.Gly1109Arg) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
G1109R (p.Gly1109Arg) variant details
- p.Gly1109Arg
- rs771359303
- ClinGen CA7474310
- ClinVar RCV001003770
- ExAC rs771359303
- Likely pathogenic
- Familial pulmonary capillary hemangiomatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.77
- MetaLR 0.34
- MetaSVM -0.32
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Familial pulmonary capillary hemangiomatosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Clinical Practice Guideline for the Management of Infantile Hemangiomas. (PMID 30584062)