P11S (p.Pro11Ser) variant of ALK (ALK tyrosine kinase receptor)
P11S (p.Pro11Ser) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- rs775832910
- ClinGen CA1595068
- ClinVar RCV002731484
- ClinVar RCV003367872
- Uncertain significance
- Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.04
- MetaLR 0.23
- MetaSVM -0.92
- CADD 12.60
- PolyPhen-2 0.01
- SIFT 0.17
- 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)