V19L (p.Val19Leu) variant of ALK (ALK tyrosine kinase receptor)
V19L (p.Val19Leu) 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 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
V19L (p.Val19Leu) variant details
- p.Val19Leu
- rs1057384991
- ClinGen CA346590778
- ClinVar RCV002025401
- TOPMed rs1057384991
- Uncertain significance
- Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.0939
- REVEL 0.03
- MetaLR 0.16
- MetaSVM -1.00
- CADD 6.02
- PolyPhen-2 0.00
- SIFT 0.54
- 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)