P40A (p.Pro40Ala) variant of ALK (ALK tyrosine kinase receptor)
P40A (p.Pro40Ala) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P40A (p.Pro40Ala) variant details
- p.Pro40Ala
- rs371679329
- ClinGen CA1595045
- ClinVar RCV000812357
- ClinVar RCV005338382
- Uncertain significance
- Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.14
- MetaLR 0.44
- MetaSVM -0.26
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Neuroblastoma, susceptibility to, 3; Hereditary cancer-predispos)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)