L9I (p.Leu9Ile) variant of ALK (ALK tyrosine kinase receptor)
L9I (p.Leu9Ile) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neuroblastoma, susceptibility to, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L9I (p.Leu9Ile) variant details
- p.Leu9Ile
- rs1335279051
- ClinGen CA346590823
- ClinVar RCV002046153
- gnomAD rs1335279051
- Uncertain significance
- Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.05
- MetaLR 0.38
- MetaSVM -0.65
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Neuroblastoma, susceptibility to, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: ALK-Related Neuroblastic Tumor Susceptibility. (PMID 20301782)