P1115L (p.Pro1115Leu) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
P1115L (p.Pro1115Leu) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
P1115L (p.Pro1115Leu) variant details
- p.Pro1115Leu
- rs774906916
- ClinGen CA7474312
- NCI-TCGA Cosmic COSV5546
- NCI-TCGA Cosmic COSV5547
- Pathogenic
- Familial pulmonary capillary hemangiomatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.70
- MetaLR 0.30
- MetaSVM -0.48
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic (Familial pulmonary capillary hemangiomatosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available
- Cited in: Clinical Practice Guideline for the Management of Infantile Hemangiomas. (PMID 30584062)