H1202L (p.His1202Leu) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
H1202L (p.His1202Leu) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
H1202L (p.His1202Leu) variant details
- p.His1202Leu
- rs1159906680
- ClinGen CA391696023
- ClinVar RCV001003771
- gnomAD rs1159906680
- Likely pathogenic
- Familial pulmonary capillary hemangiomatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.80
- MetaLR 0.35
- MetaSVM -0.25
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Familial pulmonary capillary hemangiomatosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Clinical Practice Guideline for the Management of Infantile Hemangiomas. (PMID 30584062)