L643R (p.Leu643Arg) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
L643R (p.Leu643Arg) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial pulmonary capillary hemangiomatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L643R (p.Leu643Arg) variant details
- p.Leu643Arg
- rs757852728
- ClinGen CA7473885
- ClinVar RCV000488861
- UniProt VAR 070991
- Pathogenic
- Familial pulmonary capillary hemangiomatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.89
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Familial pulmonary capillary hemangiomatosis)
- EBI: Pathogenic (in PVOD2)
- UniProt: Pathogenic (in PVOD2)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- 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)