P36Q (p.Pro36Gln) variant of ALK (ALK tyrosine kinase receptor)
P36Q (p.Pro36Gln) 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; not provided; Neuroblastoma, susceptibi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P36Q (p.Pro36Gln) variant details
- p.Pro36Gln
- rs773691688
- ClinGen CA346590683
- ClinVar RCV001371085
- ClinVar RCV002420832
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Neuroblastoma, susceptibi
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.02
- MetaLR 0.24
- MetaSVM -0.94
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Neuroblas)
- EBI: Likely benign
- UniProt: Likely benign
- 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)