P40H (p.Pro40His) variant of ALK (ALK tyrosine kinase receptor)
P40H (p.Pro40His) 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; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P40H (p.Pro40His) variant details
- p.Pro40His
- rs200212200
- ClinGen CA346590661
- ClinVar RCV000690131
- ClinVar RCV005004369
- Uncertain significance
- Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.16
- MetaLR 0.44
- MetaSVM -0.26
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Neuroblastoma, susceptibility to, 3; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)