R585Q (p.Arg585Gln) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
R585Q (p.Arg585Gln) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R585Q (p.Arg585Gln) variant details
- p.Arg585Gln
- rs587777106
- ClinGen CA149757
- ClinVar RCV000083310
- UniProt VAR 070990
- Likely pathogenic
- Familial pulmonary capillary hemangiomatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.86
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial pulmonary capillary hemangiomatosis)
- EBI: Pathogenic (in PVOD2)
- UniProt: Pathogenic (in PVOD2)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. (PMID 24292273)
- Cited in: Clinical Practice Guideline for the Management of Infantile Hemangiomas. (PMID 30584062)