A18P (p.Ala18Pro) variant of ALK (ALK tyrosine kinase receptor)
A18P (p.Ala18Pro) 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 Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A18P (p.Ala18Pro) variant details
- p.Ala18Pro
- rs1203105916
- ClinGen CA346590783
- ClinVar RCV001212607
- ClinVar RCV003163613
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.17
- MetaLR 0.30
- MetaSVM -0.36
- CADD 21.10
- PolyPhen-2 0.33
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Neuroblastoma, suscepti)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: ALK-Related Neuroblastic Tumor Susceptibility. (PMID 20301782)