L1295R (p.Leu1295Arg) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
L1295R (p.Leu1295Arg) 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 0.52 / 1. The record also includes published literature and structural context.
L1295R (p.Leu1295Arg) variant details
- p.Leu1295Arg
- rs1595431276
- ClinGen CA391696706
- ClinVar RCV001003772
- Ensembl rs1595431276
- Likely pathogenic
- Familial pulmonary capillary hemangiomatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- AlphaMissense 0.99
- MetaLR 0.43
- MetaSVM -0.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.80
- 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)