G20D (p.Gly20Asp) variant of ALK (ALK tyrosine kinase receptor)
G20D (p.Gly20Asp) 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 Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G20D (p.Gly20Asp) variant details
- p.Gly20Asp
- rs1572504071
- ClinGen CA346590770
- ClinVar RCV000824062
- ClinVar RCV005582460
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.06
- MetaLR 0.21
- MetaSVM -0.93
- CADD 17.30
- PolyPhen-2 0.05
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Neuroblastoma, suscepti)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)