P32L (p.Pro32Leu) variant of ALK (ALK tyrosine kinase receptor)
P32L (p.Pro32Leu) 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 Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- rs759748510
- ClinGen CA45004786
- ClinVar RCV000703099
- ClinVar RCV004948623
- Conflicting interpretations
- Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.1
- REVEL 0.03
- MetaLR 0.21
- MetaSVM -0.98
- CADD 6.85
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (Neuroblastoma, susceptibility to, 3; Hereditary cancer-predispos)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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)