P37L (p.Pro37Leu) variant of ALK (ALK tyrosine kinase receptor)
P37L (p.Pro37Leu) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- rs1437432300
- ClinGen CA346590676
- ClinVar RCV001309484
- ClinVar RCV005348431
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.03
- MetaLR 0.23
- MetaSVM -0.93
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Neuroblastoma, suscepti)
- EBI: Likely benign
- UniProt: Likely benign
- 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)