S21F (p.Ser21Phe) variant of ALK (ALK tyrosine kinase receptor)
S21F (p.Ser21Phe) 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 ALK-related disorder; Neuroblastoma, susceptibility to, 3; Hereditary cancer-pre. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S21F (p.Ser21Phe) variant details
- p.Ser21Phe
- rs1297347468
- ClinGen CA346590762
- ClinVar RCV003068745
- ClinVar RCV003294446
- Uncertain significance
- ALK-related disorder; Neuroblastoma, susceptibility to, 3; Hereditary cancer-pre
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.03
- MetaLR 0.24
- MetaSVM -0.93
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (ALK-related disorder; Neuroblastoma, susceptibility to, 3; Hered)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- 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)